✦ LIBER ✦

Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome

✍ Scribed by J. P. Fryns; K. Boeck; J. Jaeken; H. Berghe

Publisher: Springer
Year: 1978
Tongue: English
Weight: 280 KB
Volume: 43
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00293602

No coin nor oath required. For personal study only.

✦ Synopsis

A male newborn with a ring 10 chromosome is described. The distal part of the long arm of chromosome 10, deleted during ring formation (10q25), is translocated to the short arm of chromosome 19.

📜 SIMILAR VOLUMES

Aminopterin-like syndrome sine aminopter

Aminopterin-like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10

✍ Chen, Moy-Fong ;Vekemans, Michel ;Meagher-Villemure, K. ;Outerbridge, Eugene ;Fr 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 336 KB 👁 1 views

We studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy. G-banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female kary

Mental retardation and congenital malfor

Mental retardation and congenital malformations associated with a ring chromosome 9

✍ S. Nakajima; M. Yanagisawa; S. Kamoshita; Y. Nakagome 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 341 KB

A 46,XY,r(9) (p24q34) complement was observed in a 35-month-old boy with multiple congenital anomalies. The main clinical features included intrauterine growth retardation, dwarfism, microcephaly, peculiar face, undescended testes, seizures and severe psychomotor retardation. It appears that 4 repor

Nonsyndromic total anomalous venous retu

Nonsyndromic total anomalous venous return associated with a de novo translocation inolving chromosomes 10 and 21 t(10;21)(q23.1;q11.2)

✍ Acquati, F. ;Russo, A. ;Taramelli, R. ;Tibiletti, M.G. ;Taborelli, M. ;Camesasca 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

A patient with isochromosome 18q, radial

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation

✍ Trilochan Sahoo; Rizwan Naeem; Kim Pham; Sou Chheng; Sarah T. Noblin; Carlos A. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

Interaction between a chromosome 10 RET

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association

✍ Stacey Arnold; Anna Pelet; Jeanne Amiel; Salud Borrego; Robert Hofstra; Paul Tam 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 274 KB

Individuals with Down syndrome (DS) display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET 19.7 (rs2435357:C4T) at chromosome 10q11.2 is associated wi

A patient with a ring chromosome 2 and m

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for “ring chromosome 2 syndrome”

✍ Fowzan S. Alkuraya; Virginia E. Kimonis; Laura Holt; Joyce L. Murata-Collins 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 109 KB 👁 2 views