✦ LIBER ✦

Atypical phenotype in a female with a large Xp deletion

✍ Scribed by Thomas, N. Simon ;Huson, Susan M.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 83 KB
Volume: 104
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1583

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular cytogenetic analysis of a fami

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers

✍ Sylwia Chocholska; Eva Rossier; Gotthold Barbi; Hildegard Kehrer-Sawatzki 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

Fragile X phenotype in a patient with a

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28

✍ Albright, Susan G. ;Lachiewicz, Ave M. ;Tarleton, Jack C. ;Rao, Kathleen W. ;Sch 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 426 KB

## Abstract A 2‐year‐old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27‐q28 including deletion of FMR‐1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973–1974] and the deletio

Goldenhar phenotype in a child with dist

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

✍ Lucie Lafay-Cousin; Eric Payne; Douglas Strother; Judy Chernos; Michael Chan; Fr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 171 KB 👁 1 views

## Abstract Chromosome‐specific low copy repeats (LCRs) are implicated in several clinically significant microdeletion and microduplication syndromes. The well‐recognized phenotype of DiGeorge/velocardiofacial syndrome (DG/VCF) results from deletions of the long arm of chromosome 22 (22q11.2) media

Testicular regression in a patient with

Testicular regression in a patient with virilized female phenotype

✍ Rosenberg, Carla ;Mustacchi, Z. ;Braz, A. ;Arnhold, I. J. P. ;Chu, T. H. ;Carnev 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 410 KB 👁 1 views

## Abstract The 16‐year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46, XY and she was H‐Y antigen‐positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes d

FMR1 gene expansion, large deletion of X

FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism

✍ Alzbeta Vazna; Zuzana Musova; Marketa Vlckova; Dhahuse Novotna; Lenka Dvorakova; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB

## Abstract We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late‐onset tremor and premature ovarian failure in the maternal branch of the family point

Mosaic r(13) resulting in large deletion

Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies

✍ Lorentz, Cindy Pham ;Jalal, Syed M. ;Thompson, Dana M. ;Babovic-Vuksanovic, Dusi 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 211 KB 👁 1 views