Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

A cytogenetic survey of 14,069 newborn infants

1975 • 560 citations

Palindromic base sequences and replication of eukaryote chromosome ends

1974 • 280 citations

Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A

1978 • 277 citations

5-Methylcytosine localised in mammalian constitutive heterochromatin

1974 • 267 citations

Incidence of chromosome aberrations among 11 148 newborn children

1975 • 255 citations

The location of four human satellite DNAs on human chromosomes

1975 • 247 citations

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

1982 • 238 citations

The Prader-Willi syndrome.

1994 • 210 citations

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

1981 • 204 citations

Population cytogenetics

1992 • 181 citations

Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene-diagram drawing

1980 • 156 citations

X-Autosome translocations: Cytogenetic characteristics and their consequences

1982 • 150 citations

Systematic analysis of 95 reciprocal translocations of autosomes

1978 • 146 citations

An Analysis of the Break Points of Structural Rearrangements in Man

1974 • 137 citations

Human gene mapping using an X/autosome translocation

1976 • 135 citations

Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations.

1972 • 116 citations

A chromosome survey of 2,400 normal newborn infants

1969 • 115 citations

A G‐band study of chromosomes in liveborn infants

1980 • 115 citations

Mental retardation associated with "balanced" chromosome rearrangements.

1977 • 114 citations

Preferential derivation of abnormal human G-group-like chromosomes from chromosome 15

1977 • 114 citations

Cytogenetic and clinical studies in five cases of inv dup(15)

1979 • 112 citations

Satellite DNA and heterochromatin variants: The case for unequal mitotic crossing over

1979 • 109 citations

Population cytogenetic investigation of newborns in Moscow

1974 • 103 citations

Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring.

1975 • 102 citations

Precise identification of various chromosomal abnormalities

1973 • 101 citations

New Chromosomal Syndromes

1975 • 97 citations

Prader-Willi syndrome and chromosome 15

1983 • 88 citations

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1977 • 88 citations

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

1976 • 79 citations

Parental origin of de novo chromosome rearrangements

1980 • 74 citations

Preferential maternal derivation in inv dup(15)

1981 • 71 citations

Analyse de la trisomie 9p par d�naturation m�nag�e

1973 • 71 citations

Interstitial deletion of the long arm of chromosome 15.

1982 • 70 citations

Prader‐Willi syndrome and a bisatellited derivative of chromosome 15

1980 • 65 citations

Y/autosomal translocations

1976 • 61 citations

A cytogenetic survey of 14,069 newborn infants

1978 • 60 citations

A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10

1974 • 57 citations

[A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)].

1979 • 56 citations

Cytogenetic investigation in 413 couples with spontaneous abortions

1979 • 56 citations

Confirmation of Y/autosome translocations using recombinant DNA

1979 • 54 citations

The origin and behavior of two isodicentric bisatellited chromosomes.

1977 • 53 citations

Structural variability of human chromosome 9 in relation to its evolution

1976 • 52 citations

An aberrant small acrocentric chromosome

1962 • 51 citations

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment

1983 • 50 citations

Inherited partial duplication of chromosome No. 15

1974 • 49 citations

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1980 • 47 citations

The Prader-Willi syndrome with a 15/3 translocation.

1979 • 46 citations

'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations.

1977 • 46 citations

Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history

1983 • 45 citations

15/15 translocation in Prader-Willi syndrome.

1977 • 45 citations

The 9p- syndrome.

1976 • 45 citations

A girl with the Prader-Willi Syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1980 • 43 citations

Ribosomal and human-homologous repeated DNA distribution in the orangutan <i>(Pongo pygmaeus)</i>

1978 • 41 citations

Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16.

1983 • 41 citations

The cytogenetic controversy in the Prader‐Labhart‐Willi syndrome

1982 • 41 citations

Bisatellited extra small metacentric chromosome in newborns

1974 • 40 citations

A Familial Centric Chromosome Fragment

1965 • 39 citations

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

1973 • 39 citations

Prenatal detection of an accessory chromosome identified as an inversion duplication (15)

1981 • 38 citations

Dicentric Robertsonian translocations in man

1979 • 37 citations

Seasonal variation in the birth of children with aneuploid chromosome abnormalities

1973 • 37 citations

Karyotyp-Phenotyp-Lorrelation bei einem 46,Xdel(X)(p22)-Befund

1976 • 35 citations

Mental retardation, malformation syndrome and partial 7p monosomy [45, XX, tdic (7;15) (p21;pll)]

1976 • 35 citations

Partial trisomy 16q-

1977 • 34 citations

A New Case of Trisomy for the Short Arm of No. 9 Chromosome

1973 • 34 citations

Reassessment of presumed Y/22 and Y/15 translocations in man using a new technique

1979 • 34 citations

Nucleolus organizer activity and the origin of Robertsonian translocations

1978 • 33 citations

C‐bands in seven cases of accessory small chromosomes

1977 • 33 citations

Polymorphism of 5-methylcytosine-rich DNA in human acrocentric chromosomes

1981 • 32 citations

Assignment of the structural genes for the ? subunit of hexosaminidase A, mannosephosphate isomerase, and pyruvate kinase to the region q22-qter of human chromosome 15

1977 • 32 citations

Nucleolus organizer regions in translocations involving acrocentric chromosomes

1980 • 31 citations

Autoradiographic studies on an X-autosomal translocation in man: 45, X,15–, tan(15qXq+)+

1971 • 31 citations

Banding patterns and autoradiographic studies of cells with an X‐autosome translocation

1973 • 31 citations

Nonrandom distribution of exchange points in patients with structural rearrangements.

1976 • 31 citations

Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: Confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB

1981 • 30 citations

Trisomy for the short arms of chromosome 9 in two generations, with balanced translocations t(15p+;9q−) in three generations

1974 • 30 citations

Chromosome 15 in floppy infants

1981 • 29 citations

Letters to the Editor

1976 • 29 citations

Prader‐Willi syndrome and chromosomal mosaicism 46, XY/47, XY, + mar in two cases

1979 • 28 citations

Nonrandom distribution of exchange points in patients with reciprocal translocations

1980 • 28 citations

Two kinships with accessory bisatellited chromosomes.

1973 • 28 citations

A chromosome survey of a hospital for the mentally subnormal

1979 • 27 citations

Preferential fluorescent staining of heterochromatic regions in human chromosomes 9, 15, and the Y by D 287/170

1981 • 27 citations

[Translocation 46,XX, t(15; 21) (q13; q22,1) in the mother of 2 children with partial trisomy 15 and monosomy 21].

1973 • 26 citations

Adjacent 2 meiotic disjunction. Report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature

1981 • 26 citations

A CASE OF PRADER‐WILLI SYNDROME IN A GIRL WITH A SMALL EXTRA CHROMOSOME

1971 • 26 citations

Significance of detection of extra metacentric microchromosome in amniotic cell culture.

1978 • 25 citations

Robertsonian translocation between the chromosome Y and 15

1974 • 25 citations

An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15.

1975 • 25 citations

16q trisomy in a family with a balanced 15/16 translocation.

1975 • 25 citations

Duplication 15q22�15qter and its phenotypic expression

1981 • 25 citations

Primary Hypogonadism and 13/15 Chromosome Translocation in Prader-Labhart-Willi Syndrome

1981 • 24 citations

[Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)].

1976 • 24 citations

X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.

1979 • 24 citations

EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER‐REACTIVITY AND DERMATOGLYPHIC ABNORMALITIES

1980 • 23 citations

Translocations in Prader‐WiIIi syndrome

1983 • 23 citations

Double Aneuploidy

1975 • 23 citations

Nucleolar organizing regions of human chromosomes

1979 • 23 citations

Partial trisomy of chromosome number 15 identified by trypsin-Giemsa banding.

1973 • 23 citations

FOUR CASES OF 9p TRISOMY RESULTING FROM A BALANCED FAMILIAL TRANSLOCATION (9; 15) (q13;q11). CLINICAL PICTURE AND CYTOGENETIC FINDINGS

1974 • 23 citations

Chromosome 15 and Prader‐Willi Syndrome

1978 • 23 citations

Demonstration of Y/autosomal translocations using distamycin A

1979 • 22 citations

Partial 2p trisomy (p21→pter) in two siblings of a family with a 2p‐:15q+ translocation

1978 • 22 citations

Pericentric inversion of a number 15 chromosome in nine members of one family

1970 • 21 citations

A complex chromosome rearrangement resulting in trisomy 15q22->qter

1982 • 21 citations

Report of a trisomy 8p infant with carrier father.

1978 • 21 citations

A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome

1980 • 21 citations

Trisomy 9p resulting from de novo 9/15 translocation and a 9p isochromosome

1979 • 21 citations

Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities

1976 • 21 citations

[X-chromosome translocations. Examination based on treatment with BUDR and staining with acridine orange].

1974 • 21 citations

Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation

1979 • 21 citations

A familial minute isochromosome.

1966 • 21 citations

Familial extra centric bisatellited chromosome

1969 • 20 citations

Unexpected structural chromosome rearrangements in prenatal diagnosis

1982 • 20 citations

A case of trisomy 9p in a family with translocation 9/15

1975 • 20 citations

Congenital heart disease with del(15q) mosaicism

1980 • 20 citations

La trisomie 4p

1975 • 20 citations

Reciprocal or nonreciprocal human chromosome translocations?

1977 • 20 citations

Unstable familial translocations: A t(11;22)mat inherited as a t(11;15).

1981 • 19 citations

Genetic studies on a minute centric fragment transmitted through three generations

1970 • 19 citations

Two familial cases with trisomy 15q dist due to a rcp(5;15)(p14;q21)

1981 • 19 citations

Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome.

1975 • 19 citations

The 9p‐ deletion syndrome. Report of a patient with a 46, XX, 9p‐ constitution due to a paternal t(9p‐; 15q+) translocation

1975 • 19 citations

Tandem translocation 15-13.

1973 • 19 citations

PRENATAL DIAGNOSIS OF CHROMOSOME ABNORMALITIES

1972 • 18 citations

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

1980 • 18 citations

A G-like trisomy with a major 15 proximal supernumerary component derived from a D/E balanced maternal interchange

1975 • 18 citations

Quantitative and qualitative study of acrocentric associations in 109 normal subjects

1976 • 18 citations

Identification of a D/E(15/18) translocation chromosome by quinacrine fluorescence and Urea banding techniques

1973 • 18 citations

Further delineation of the supernumerary chromosome in the Cat‐Eye Syndrome

1977 • 18 citations

A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)

1982 • 17 citations

Recurrence of Down syndrome associated with microchromosome

1979 • 17 citations

Familial partial trisomy 15.

1977 • 17 citations

Trisomy 8p due to the 3:1 segregation of the balanced translocation t(8;15)mat

1979 • 16 citations

Chromosome 6/15 translocation with multiple congenital anomalies.

1977 • 16 citations

Cytogenetic findings in 4952 prenatal diagnoses. An Italian collaborative study

1982 • 15 citations

A case of partial trisomy 15

1974 • 15 citations

Partial trisomy 4q.

1977 • 15 citations

The elfin face syndrome and the short arm of chromosome 15.

1982 • 15 citations

[Partial trisomy for the distal part of the long arm of chromosome 15 due to a balanced maternal X/15 tranlsocation].

1977 • 15 citations

Trisomy 4p in a family with A t(4;15).

1975 • 15 citations

Trisomy 9p in a patient with a de novo 9/15 translocation

1975 • 15 citations

Small accessory chromosomes (SAC) and their genotype--phenotype correlation.

1982 • 15 citations

[Trisomy 9p : 2 further cases].

1974 • 14 citations

The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction

1977 • 14 citations

A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter).

1982 • 14 citations

An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome.

1970 • 14 citations

RESULTS OF 538 CHROMOSOME STUDIES ON PATIENTS REFERRED FOR CYTOGENETIC ANALYSIS

1972 • 14 citations

De novo translocation t(Yq?; 15p+) in a malformed boy

1973 • 14 citations

Inherited parital duplication deficiency of chromosome 15 (p12;q22).

1978 • 14 citations

Cat Eye-Syndrom

1975 • 13 citations

Partial trisomy 15q1

1976 • 13 citations

[The Prader-Willi syndrome and 15-15 translocation].

1977 • 13 citations

Possible Autosomal Isochromosome in a Malformed Child

1966 • 13 citations

A new case of Prader-Willi syndrome with chromosomal aberration.

1981 • 13 citations

Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture

1979 • 12 citations

Possible origin of a small bisatellited additional chromosome

1980 • 12 citations

A 15/17 Translocation in a Patient with Prader-Labhart-Willi Syndrome

1982 • 12 citations

[Interstitial deletion of the long arms of chromosome 13].

1982 • 12 citations

Mono zygotic twinning as a cause of fetal wastage

1980 • 12 citations

[Distal trisomy 15q].

1977 • 12 citations

Partial trisomy 15 and temporal lobe syndrome in a retarded girl without gross malformations

1978 • 11 citations

Two cases of partial trisomy 10q in the same family caused by parental direct insertion [ins. (15;10) (q15;q24q26)].

1979 • 11 citations

Father and daughter with presumptive isochromosome satellites-short arms D or G

1973 • 11 citations

Somatic cell genetic assignment of the human gene for mitochondrial NADP-linked isocitrate dehydrogenase to the long arm of chromosome 15

1977 • 11 citations

A girl with 46, XX, t(1;15) karyotype. Cytogenetic and clinical observations

1975 • 11 citations

Trisomy 4p14 ? 4pter with translocation t(4;15)(p14;p12) in the father

1975 • 10 citations

The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship

1978 • 10 citations

Properties and significance of a small marker chromosome in amniotic fluid cells

1980 • 10 citations

Inherited t2q‐/15q+ translocation and Down's syndrome

1976 • 10 citations

A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation

1982 • 10 citations

[Transmission of a small supernumerary chromosome in a family with two cases of 21 trisomy].

1968 • 9 citations

A bisatellited marker chromosome in a mentally retarded girl with infantile autism

2009 • 9 citations

Prenatal karyotype analysis in high risk families.

1973 • 8 citations

[Partial trisomy 15q due to maternal translocation t(7;15)(q35;14)].

1976 • 8 citations

Further Identification of a D/E Translocation

1975 • 8 citations

Translocation of a supernumerary Y to a 15: Study of six cases (three males and three females) in three generations

1979 • 8 citations

A 13-year-old girl with karyotype 47,XX,+i(22)(qll)

1981 • 8 citations

A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5

1975 • 8 citations

A masculinizing syndrome associated with a doubly-satellited extra chromosome.

1965 • 8 citations

Nucleolus-organiser regions in familial extra metacentric human chromosomes

1980 • 7 citations

Partial trisomy 15 in a male with severe psychomotor retardation (48,XY,+15q−, +mar(15))

1982 • 7 citations

A new case of partial trisomy 15q-

1979 • 7 citations

A supernumerary “G” like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl

1979 • 6 citations

Familial Y-autosome translocation in two unrelated girls.

1982 • 6 citations

A Familial Extra Small Marker Autosome in Persons with Normal Phenotype

1979 • 6 citations

Bisatellited dicentric chromosome: A report on a case with karyotype 47,XY,+psu dic(22)t(22;22)(22pter?cen?22q11::22q11?22pter)

1982 • 5 citations

Silver staining of the supernumerary chromosome in the cat-eye syndrome.

1980 • 5 citations

[Prader-Willi syndrome and translocation 15/15].

1982 • 5 citations

[Maternal translocation t (1; 8; 15) and trisomy 8 qter in her daughter. Genetic counseling].

1980 • 4 citations

[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].

1975 • 4 citations

Three interesting cases of Down's syndrome.

1983 • 4 citations

Inherited 13/14 translocation and meta‐centric microchromosome associated with trisomy 21: Report of 2 cases

1983 • 4 citations

Discovery of an inherited bisatellited metacentric microchromosome in amniotic cell culture

1980 • 4 citations

Robertsonian Translocations

1980 • 4 citations

Familial deletion.

1983 • 3 citations

[Balanced translocation t(15q-;16p+) as cause of habitual abortions].

1973 • 2 citations

[A model for determination of the expected numbers of chromosome alterations and break points].

1979 • 2 citations

Chromosome abnormalities and male sterility.

1975 • 2 citations

Cri‐du‐chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin

1978 • 1 citations

Origin of a paternal (13q; 15q) translocation leading to dup(13q) in two half sibs

1983 • 1 citations