✦ LIBER ✦

Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies

✍ Scribed by R. L. Neu; B. G. Kousseff; S. Madan; Y.-P. Essig; K. Miller; T. A. Tedesco

Book ID: 115089759
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 320 KB
Volume: 33
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1988.tb03413.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Mentally Retarded Boy with Multiple Co

A Mentally Retarded Boy with Multiple Congenital Anomalies and Aberrant Morphology in a No. 18 Chromosome

✍ C. van Kempen 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 514 KB

Partial trisomy 4q and monosomy 9p in a

Partial trisomy 4q and monosomy 9p in a girl with severe mental retardation, multiple anomalies and congenital hypoglycaemia

✍ Lauda-Świeciak, Anna; Haus, Olga; Kurylak, Danuta; Duszeńko, Ewa; Soszyńska, Kry 📂 Article 📅 2007 🏛 Elsevier 🌐 Polish ⚖ 313 KB

Blepharophimosis and mental retardation

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature

✍ Deborah Bartholdi; Sandra P. Toelle; Bernhard Steiner; Eugen Boltshauser; Albert 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 736 KB

Using a combination of MLPA kits to dete

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries

✍ Fernanda Sarquis Jehee; Jean Tetsuo Takamori; Paula F. Vasconcelos Medeiros; Ana 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 548 KB

No evidence for ITSN1 loss in a patient

No evidence for ITSN1 loss in a patient with mental retardation and complex chromosomal rearrangements of 21q21–21q22

✍ Ripperger, Tim; Tauscher, Marcel; Thomay, Kathrin; Göhring, Gudrun; Kraemer, Dor 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 517 KB

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3

✍ Sixto Garcia-Miñaur; Jacqueline Ramsay; Elizabeth Grace; Robert A. Minns; Lynn M 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB 👁 3 views