✦ LIBER ✦

Dystrophinopathy in a young boy with Klinefelter's syndrome

✍ Scribed by L. Santoro; L. Pastore; P. Gasparo Rippa; A.V.M. Orsini; E. Del Giudice; G. Vita; G. Frisso; F. Salvatore

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 327 KB
Volume: 21
Category: Article
ISSN: 0148-639X
DOI: 10.1002/(sici)1097-4598(199806)21:6<792::aid-mus12>3.0.co;2-v

No coin nor oath required. For personal study only.

✦ Synopsis

We report the first case of a child with mild dystrophinopathy associated with Klinefelter's syndrome (karyotype 47, XXY). This 3.5-yearold boy was affected by some symptoms suggestive of Becker's muscular dystrophy. Dystrophin immunostaining and immunoblotting procedures confirmed the diagnosis, but polymerase chain reaction-directed gene analysis failed to reveal any macrodeletion. Methylation-based assay did not show preferential X-inactivation. This confirmed the coexistence of the two active X-chromosomes (one of which was of paternal origin), thus accounting for the mild form of dystrophinopathy in this child affected by Klinefelter's syndrome.

📜 SIMILAR VOLUMES

Parkinson's syndrome in a young patient

Parkinson's syndrome in a young patient with Klinefelter's syndrome —A case report

✍ Jan-Philipp Bach; Norbert Sommer; Jens Carsten Möller; Wolfgang H. Oertel; Richa 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB

Mediastinal teratoma and precocious pube

Mediastinal teratoma and precocious puberty in a boy with mosaic Klinefelter syndrome

✍ Derenoncourt, Ajanta N. ;Castro-Magana, M. ;Jones, Kenneth Lee 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 517 KB

W e describe a boy who developed precocious puberty resulting from chorionic gonadotropin produced by a mediastinal germ cell tumor. Following tumor removal he began spontaneous precocious sexual development which was treated and then arrested spontaneously. Investigation of this arrested puberty es

Cognitive and motor development during c

Cognitive and motor development during childhood in boys with Klinefelter syndrome

✍ Judith L. Ross; David P. Roeltgen; Gerry Stefanatos; Rebecca Benecke; Martha P.D 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB

Seminoma in Klinefelter's syndrome with

Seminoma in Klinefelter's syndrome with 47 XXY, 15s+ karyotype

✍ Koichiro Isurugi; Sadao Imao; Kinjiro Hirose; Hiroko Aoki 📂 Article 📅 1977 🏛 John Wiley and Sons 🌐 English ⚖ 649 KB

Primary mediastinal embryonal carcinoma

Primary mediastinal embryonal carcinoma in association with Klinefelter's syndrome

✍ Michael M. McNeil; Anthony S-Y. Leong; Robert E. Sage 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB 👁 2 views

Mapping nonverbal IQ in young boys with

Mapping nonverbal IQ in young boys with fragile X syndrome

✍ Martie Skinner; Stephen Hooper; Deborah D. Hatton; Jane Roberts; Penny Mirrett; 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 130 KB 👁 3 views