✦ LIBER ✦

Second 46,XX male with MLS syndrome

✍ Scribed by Stratton, Robert F.; Walter, Christi A.; Paulgar, Brent R.; Price, Mary E.; Moore, Charleen M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 31 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980226)76:1<37::aid-ajmg6>3.0.co;2-m

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. Biopsy of a linear streak showed smooth muscle hamartomata rather than the presumed dermal aplasia. Detailed ophthalmologic examination did not show retinal lacunae typical of Aicardi syndrome. DNA studies with distal Xp specific probes indicated a deletion in one X chromosome and fluorescence in situ hybridization (FISH) studies with X-and Y-specific probes demonstrated the presence of a derivative X chromosome from an X;Y translocation. Am.

📜 SIMILAR VOLUMES

Prenatal diagnosis of 46,XY/46,XX mosaic

Prenatal diagnosis of 46,XY/46,XX mosaicism: A case report

✍ Yaron, Yuval; Feldman, Baruch; Kramer, Ralph L.; Kasperski, Stefanie B.; Vo, Tri 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single ma

Parigi nel XX secolo

✍ Verne, Jules;Grasso, Maurizio 📂 Fiction 📅 1995 🏛 Newton Compton 🌐 Italian ⚖ 156 KB 👁 1 views

Parigi nel XX secolo

✍ Verne, Jules;Grasso, Maurizio 📂 Fiction 📅 1995 🏛 Newton Compton Editori 🌐 Italian ⚖ 159 KB 👁 1 views

Era il 1863 quando Jules Verne scriveva questo suo secondo libro, romanzo di anticipazione fantastica, abbandonato alla prima stesura e pubblicato solo nel 1994 dalla casa editrice francese Hachette, che annunciò con grande clamore questa famosa riscoperta. Eppure, le immagini evocate da quello che

Parigi nel XX secolo

✍ Verne, Jules;Grasso, Maurizio 📂 Fiction 📅 1995 🏛 Newton Compton 🌐 Italian ⚖ 156 KB 👁 1 views

Parigi nel XX secolo

✍ Verne, Jules;Grasso, Maurizio 📂 Fiction 📅 1995 🏛 Newton Compton 🌐 Italian ⚖ 156 KB 👁 1 views

Second case of bladder carcinoma in a pa

Second case of bladder carcinoma in a patient with Costello syndrome

✍ Gripp, Karen W.; Scott, Charles I.; Nicholson, Linda; Figueroa, T. Ernesto 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views