✦ LIBER ✦

Ring 18 chromosome with mental retardation, hemidysmorphism, and mitochondrial encephalomyopathy

✍ Scribed by Amit, R.; Gutman, A.; Udassin, R.; Barash, V.; Kohn, G.

Book ID: 123389533
Publisher: Elsevier Science
Year: 1988
Tongue: English
Weight: 427 KB
Volume: 4
Category: Article
ISSN: 0887-8994
DOI: 10.1016/0887-8994(88)90070-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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

Mental retardation and congenital malfor

Mental retardation and congenital malformations associated with a ring chromosome 6

✍ K. Fried; M. Rosenblatt; G. Mundel; R. Krikler 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 359 KB

De novo mosaic ring chromosome 18 in a c

De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems

✍ Adriana Lo-Castro; Nadia El-Malhany; Cinzia Galasso; Alberto Verrotti; Anna Mari 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 220 KB

Moderate mental retardation and nonspeci

Moderate mental retardation and nonspecific dysmorphic syndrome associated with ring chromosome 9

✍ J. P. Fryns; A. Lambrechts; H. Jansseune; H. Berghe 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 224 KB

A ring chromosome 9 is reported in a 12-year-old, moderately mentally retarded boy. As in other ring chromosome 9 patients, the clinical stigmata are nonspecific and their expressivity is mild. The finding of two normal cells of a total of 121 cells examined favors the hypothesis of a postzygotic, m

P08.6 De novo mosaic ring chromosome 18

P08.6 De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems.

✍ A. Lo-Castro; C. Galasso; L. Di Carlo; P. Cúratelo 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 36 KB

Chromosome 18q paracentric inversion in

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss

✍ Keppler-Noreuil, Kim M.; Carroll, Andrew J.; Finley, Sara C.; Descartes, Maria; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 2 views

We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv( )(q21.1q23). The child had findings in common with those seen in 18q-syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on