Physical and Transcript Map of a 2-Mb Region in Xp22.1 Containing Candidate Genes for X-linked Mental Retardation and Short Stature

Genomics ◽  
2002 ◽  
Vol 79 (3) ◽  
pp. 274-277 ◽  
Author(s):  
Shanxiang Zhang ◽  
Ralf Krahe
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Candidate Genes ◽  
Transcript Map

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

2010 ◽  
Vol 155 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Shubha R. Phadke ◽  
Sheetal Sharda ◽  
Jill Urquhart ◽  
Emma Jenkinson ◽  
Shobhit Chawala ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature

scholarly journals Potential oligogenic disease of mental retardation, short stature, spastic paraparesis and osteopetrosis

2018 ◽  
Vol Volume 11 ◽  
pp. 129-134
Author(s):  
Abdulaziz Alsemari ◽  
Mohanned Alsuhaibani ◽  
Rawabi Alhathlool ◽  
Bayan Mamdouh Ali
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Spastic Paraparesis

scholarly journals Cataract in Seckel Syndrome

1970 ◽  
Vol 13 (1) ◽  
pp. 12-15
Author(s):  
Vinita Girish Rao ◽  
Gunjan Abhijit Deshpande ◽  
Girish Shiva Rao ◽  
Pooja G Rehman
Keyword(s):  
Mental Retardation ◽  
Cataract Surgery ◽  
Short Stature ◽  
Growth Retardation ◽  
In Utero ◽  
Small Incision Cataract Surgery ◽  
Seckel Syndrome ◽  
Bilateral Cataract ◽  
Small Incision ◽  
Severe Growth

Seckel syndrome is an extremely rare inherited disorder characterised by severe growth retardation in utero, which continues later in life, resulting in short stature. Seckel syndrome presents as microcephaly, mental retardation, and a beak-like nose. This report describes a patient with Seckel syndrome who had bilateral cataract and underwent uneventful small incision cataract surgery in both eyes. The association of cataract with Seckel syndrome has not been described in the literature to the best of the authors’ knowledge.

MOSAICISM OF AN ABNORMALLY LONG B CHROMOSOME IN A BOY WITH PHYSICAL AND MENTAL RETARDATION

PEDIATRICS ◽  
1967 ◽  
Vol 39 (1) ◽  
pp. 68-74
Author(s):  
Lillian Y. F. Hsu ◽  
Iris Nemhauser ◽  
Hilda K. Bettmann ◽  
Edna H. Sobel
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Cell Line ◽  
Normal Cell ◽  
B Chromosome ◽  
B Chromosomes ◽  
Normal Cell Line

An 11-year-old boy with short stature, mental retardation, low-set ears, simian creases, unusual dermatoglyphic patterns, and bilateral dysplastic mid-phalanges of the fifth fingers was found to have mosaicism in both leukocyte and fibroblast (skin) cultures. The normal cell-line predominated and the second cell-line contained an abnormally long chromosome B. The autoradiographic studies suggest that the abnormally long chromosome may involve a No. 5 which contains a translocated on inserted segment of an unknown donor autosome. The possible mechanism for the occurrence of this abnormality is discussed. Nine other instances of abnormally long B chromosomes (with lengthened long arm due to translocation) are reviewed and compared.

The Langer-Giedion Syndrome: Report of a 22-Year-Old Woman

PEDIATRICS ◽  
1979 ◽  
Vol 64 (4) ◽  
pp. 542-545
Author(s):  
William G. Wilson ◽  
Robert T. Herrington ◽  
Arthur S. Aylsworth
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Clinical Course ◽  
Malignant Change ◽  
Delayed Puberty ◽  
Protruding Ears ◽  
Sparse Hair ◽  
Multiple Cartilaginous Exostoses ◽  
Syndrome Report

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

scholarly journals Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia

2008 ◽  
Vol 45 (12) ◽  
pp. 787-793 ◽  
Author(s):  
F E Abidi ◽  
L Holloway ◽  
C A Moore ◽  
D D Weaver ◽  
R J Simensen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature

A DNA Repair Defect in a Patient With Ataxia, Mental Retardation, and Short Stature

1998 ◽  
Vol 18 (4) ◽  
pp. 358-361 ◽  
Author(s):  
Takanori Yamagata ◽  
Mariko Y. Momoi ◽  
Shigeko Saitoh ◽  
Kumiko Takadaya ◽  
Kenji Sato
Keyword(s):  
Dna Repair ◽  
Mental Retardation ◽  
Short Stature ◽  
Repair Defect

scholarly journals Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

2006 ◽  
Vol 51 (8) ◽  
pp. 695-700 ◽  
Author(s):  
Xiangming Guo ◽  
Huangxuan Shen ◽  
Xueshan Xiao ◽  
Qilin Dai ◽  
Shiqiang Li ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Chinese Family
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