✦ LIBER ✦

A case of 46,XY,t(1;13) (q24;q32) with mental retardation

✍ Scribed by Lorraine Wilbur; Frances M. Curcuru-Giordano; Sita G. Krishna; Nataline B. Kardon; Edmund C. Jenkins

Publisher: Springer
Year: 1977
Tongue: English
Weight: 467 KB
Volume: 37
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00393588

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A translocation 46,XY,t(1;2)(q32;q21) in

A translocation 46,XY,t(1;2)(q32;q21) in a male with reproductive failure

✍ S. Kaur 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 22 KB

Deficiency of coagulation factors VII an

Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34)

✍ R. A. Pfeiffer; R. Ott; S. Gilgenkrantz; P. Alexandre 📂 Article 📅 1982 🏛 Springer 🌐 English ⚖ 507 KB

Blepharophimosis, ptosis, epicanthus inv

Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]

✍ Boccone, Loredana ;Meloni, Antonella ;Falchi, Angela M. ;Usai, Valeria ;Cao, Ant 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB

De novo pure 12q22q24.33 duplication: Fi

De novo pure 12q22q24.33 duplication: First report of a case with mental retardation, ADHD, and Dandy-Walker malformation

✍ S. Cappellacci; S. Martinelli; R. Rinaldi; E. Martinelli; P. Parisi; B. Mancini; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 180 KB 👁 1 views

Asplenia syndrome in a child with a bala

Asplenia syndrome in a child with a balanced reciprocal translocation of chromosomes 11 and 20 [46,XX,t(11;20)(q13.1;q13.13)]

✍ Freeman, Sallie B.; Muralidharan, Kasinathan; Pettay, Dorothy; Blackston, R. Dwa 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We present a 6-year-old girl with a balanced 11;20 translocation [46,XX,t(11;20)(q13.1; q13.13)patl, asplenia, pulmonic stenosis, Hirschsprung disease, minor anomalies, and mental retardation. This case represents the second report of an individual with situs abnormalities and a balanced chromosome

Duplication of (2)(q11.1-q13.2) in a boy

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: Another clefting gene locus on proximal 2q?

✍ Riegel, Mariluce ;Schinzel, Albert 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 1 views