Chromosome 15 Anomalies and the Prader-Willi Syndrome: Cytogenetic Analysis

Overview

Journal Hum Genet

Specialty Genetics

Date 1984 Jan 1

PMID 6373566

Citations 32

Authors

M G Mattei

N Souiah

J F Mattei

Affiliations

Soon will be listed here.

Abstract

The behaviour of chromosome 15 is very different from that of the other acrocentric chromosomes. The cytogenetic characteristics of rearrangements associated with Prader-Willi syndrome (PWS) are analyzed as similar rearrangements irrespective of the associated phenotype (reciprocal translocations of chromosome 15, small bisatellited additional chromosomes, Robertsonian translocations, interstitial deletions, pericentric inversions). This study suggests that: (1) The proximal ( 15q ) region and PWS seem to be indissociable ; (2) chromosome 15 has an indisputable cytogenetic originality which could be related to its histochemical properties. Chromosome 15 constitutive heterochromatin usually contains much 5-methylcytosine-rich DNA and a large amount of each of the four satellite DNAs. Furthermore the existence in the proximal ( 15q ) region of one or several palindromic sequences could be postulated to explain the great lability of this region of chromosome 15.

Citing Articles

Spatial inter-centromeric interactions facilitated the emergence of evolutionary new centromeres.

Guin K, Chen Y, Mishra R, Muzaki S, Thimmappa B, OBrien C Elife. 2020; 9.

PMID: 32469306 PMC: 7292649. DOI: 10.7554/eLife.58556.

AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS.

Butler M, Murrell J, Greene H Dysmorphol Clin Genet. 2014; 4(1):18-22.

PMID: 25505361 PMC: 4258711.

INTRAFAMILIAL AND MIDPARENTAL-CHILD CORRELATIONS AND HERITABILITY ESTIMATES OF ANTHROPOMETRIC MEASUREMENTS IN PRADER-WILLI SYNDROME FAMILIES.

Butler M, Haynes J, Meaney F Dysmorphol Clin Genet. 2014; 4(1):2-6.

PMID: 25505360 PMC: 4259252.

Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

Wandstrat A, Jenkins L, Schwartz S Am J Hum Genet. 1998; 62(4):925-36.

PMID: 9529335 PMC: 1377019. DOI: 10.1086/301777.

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.

Cheng S, Spinner N, Zackai E, Knoll J Am J Hum Genet. 1994; 55(4):753-9.

PMID: 7942854 PMC: 1918309.

References

Yunis J, Sanchez O . A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10. J Pediatr. 1974; 84(4):567-70. DOI: 10.1016/s0022-3476(74)80683-9. View

Raoul O, Carpentier S, Dutrillaux B, Mallet R, LeJeune J . [Partial trisomy of chromosome 21 by maternal translocation t(15;21) (q26.2; q21)]. Ann Genet. 1976; 19(3):187-90. View

Giraud F, Mattei J, Mattei M, Ayme S, Bernard R . [Trisomy 4p. Three new observations (author's transl)]. Humangenetik. 1975; 30(2):99-108. DOI: 10.1007/BF00291941. View

Subrt I, PRCHLIKOVA H . An extra chromosomal centric fragment in an infant with stigmata of Down's syndrome. J Med Genet. 1970; 7(4):407-9. PMC: 1468936. DOI: 10.1136/jmg.7.4.407. View

Rasmussen K, Nielsen J, Sillesen I, BRASK B . A bisatellited marker chromosome in a mentally retarded girl with infantile autism. Hereditas. 1976; 82(1):37-42. DOI: 10.1111/j.1601-5223.1976.tb01535.x. View

Turleau C, de Grouchy J, ROUBIN M . [Distal trisomy 15q]. Ann Genet. 1977; 20(3):214-6. View

Kurnit D . Satellite DNA and heterochromatin variants: the case for unequal mitotic crossing over. Hum Genet. 1979; 47(2):169-86. DOI: 10.1007/BF00273199. View

Schmickel R, POZNANSKI A, Himebaugh J . 16q trisomy in a family with a balanced 15/16 translocation. Birth Defects Orig Artic Ser. 1975; 11(5):229-36. View

Bergamo F, CROSATO F, Francesconi D, Pasqual F, Zuffardi O . The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction. Clin Genet. 1977; 11(3):219-23. DOI: 10.1111/j.1399-0004.1977.tb01303.x. View

10.

Duckett D, Roberts S . Adjacent 2 meiotic disjunction. report of a case resulting from a familial 13q;15q balanced reciprocal translocation and review of the literature. Hum Genet. 1981; 58(4):377-86. DOI: 10.1007/BF00282819. View

11.

Turleau C, de Grouchy J, ROUBIN M, Langmaid H . [Trisomy 9p : 2 further cases]. Ann Genet. 1974; 17(3):167-74. View

12.

Ming P, Goodner D, Park T . Chromosome 6/15 translocation with multiple congenital anomalies. Obstet Gynecol. 1977; 49(2):251-3. View

13.

Orye E, Verhaaren H . The 9p- deletion syndrome. Report of a patient with a 46, XX, 9P- constitution due to a paternal t(9p-;15+) translocation. Clin Genet. 1975; 8(5):349-57. DOI: 10.1111/j.1399-0004.1975.tb01513.x. View

14.

Nielsen J, Rasmussen K . Y/autosomal translocations. Clin Genet. 1976; 9(6):609-17. DOI: 10.1111/j.1399-0004.1976.tb01621.x. View

15.

Evans J, Canning N, Hunter A, Martsolf J, Ray M, Thompson D . A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet. 1978; 20(1-6):96-123. DOI: 10.1159/000130843. View

16.

Benitez J, Rivera L, Ramos C, Tejedor E, SANCHEZ-CASCOS A . Translocation of a supernumerary Y to a 15: study of six cases (three males and three females) in three generations. Hum Genet. 1979; 48(2):191-4. DOI: 10.1007/BF00286903. View

17.

Hansmann I, Wiedeking C, Grimm T, Gebauer J . Reciprocal or nonreciprocal human chromosome translocations? The identification of reciprocal translocations by silver staining. Hum Genet. 1977; 38(1):1-5. DOI: 10.1007/BF00295801. View

18.

Verma R, Peakman D, Robinson A, Lubs H . Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities. Cytogenet Cell Genet. 1976; 16(6):479-86. DOI: 10.1159/000130665. View

19.

Smith K, Steinberger E, Steinberger S, PERLOFF W . A familial centric chromosome fragment. Cytogenetics. 1965; 4(4):219-26. DOI: 10.1159/000129858. View

20.

Borgaonkar D, Ebenezer L, Scott Jr C, Golomb H, BAHR G . Identification of a D-E(15-18) translocation chromosome by quinacrine fluorescence and urea banding techniques. Humangenetik. 1973; 17(4):317-21. DOI: 10.1007/BF00273186. View