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Titolo:
A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from hismother and neurofibromatosis type 1 from his father
Autore:
Wei, FL; Cheng, S; Badie, N; Elder, F; Scott, C; Nicholson, L; Ross, JL; Zinn, AR;
Indirizzi:
Univ Texas, SW Med Sch, McDermott Ctr Human Growth & Dev, Dallas, TX 75390USA Univ Texas Dallas TX USA 75390 tr Human Growth & Dev, Dallas, TX 75390USA Univ Texas, SW Med Sch, Dept Pathol, Dallas, TX 75230 USA Univ Texas Dallas TX USA 75230 Med Sch, Dept Pathol, Dallas, TX 75230 USA Alfred I DuPont Hosp Children, Wilmington, DE USA Alfred I DuPont Hosp Children Wilmington DE USA dren, Wilmington, DE USA Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107 hiladelphia, PA 19107 USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 102, anno: 2001,
pagine: 353 - 358
SICI:
0148-7299(20010901)102:4<353:AMWIHS>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
X-CHROMOSOME; TURNER-SYNDROME; X/Y TRANSLOCATIONS; SHORT STATURE; Y-CHROMOSOME; MUTATIONS; DELETIONS; ANOMALIES; SEQUENCES; FEMALES;
Keywords:
Leri-Weill dyschondrosteosis; SRY; SHOX; sex chromosome abnormalities; Turner syndrome; mosaicism; pseudoautosomal region;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Zinn, AR Univ Texas, SW Med Sch, McDermott Ctr Human Growth & Dev, 5323 Harry HinesBlvd, Dallas, TX 75390 USA Univ Texas 5323 Harry Hines Blvd DallasTX USA 75390 TX 75390 USA
Citazione:
F.L. Wei et al., "A man who inherited his SRY gene and Leri-Weill dyschondrosteosis from hismother and neurofibromatosis type 1 from his father", AM J MED G, 102(4), 2001, pp. 353-358

Abstract

We report on a man with neurofibromatosis type 1 (NF1) and Leri-Weill dyschondrosteosis (LWD). His father had NF1. His mother had LWD plus additionalfindings of Turner syndrome (TS): high arched palate, bicuspid aortic valve, aortic stenosis, and premature ovarian failure. The proband's karyotype was 46,Y.,dic(YY)(p22.3;p11.32). Despite having almost the same genetic constitution as 47,XXY Klinefelter syndrome, he was normally virilized, although slight elevation of serum gonadotropins indicated gonadal dysfunction. His mother's karyotype was mosaic 45,X[17 cells]/46,Xdic(XY)(p22.3; p11.32)[3 cells].ish dic(YY)(DXZ1+,DYZ1+). The dic(Y.,Y) chromosome was also positive for Y markers PABY, SRY, and DYZ5, but negative for SHOX. The dic(XY) chromosome was also positive for X markers DXZ1 and a sequence <300 kb from PABX, suggesting that the deletion encompassed only pseudoautosomal sequences. Replication studies indicated that the normal X and the dic(Y,Y) were randomly inactivated in the proband's lymphocytes. LWD in the proband and hismother was explained by SHOX haploinsufficiency. The mother's female phenotype was most likely due to 45,X mosaicism. This family segregating Mendelian and chromosomal disorders illustrates extreme sex chromosome variation compatible with normal male and female sexual differentiation. The case alsohighlights the importance of karyotyping for differentiating LWD and TS, especially in patients with findings such as premature ovarian failure or aortic abnormalities not associated with isolated SHOX haploinsufficiency. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 22:33:45