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Literature DB >> 6538753

X-linked mental retardation associated with bilateral clasp thumb anomaly.

Abstract

We report on a family in which mental retardation is associated with a bilateral clasp-thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X-linked inheritance. We are not aware of previous reports of X-linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.

Entities: Disease

Mesh：

Year: 1984 PMID： 6538753 DOI： 10.1002/ajmg.1320170126

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

13 in total

1. Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

Authors: G N Wilson; C S Richards; K Katz; G S Brookshire
Journal: J Med Genet Date: 1992-09 Impact factor: 6.318

2. MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

Authors: C Schrander-Stumpel; J Fryns; J J Cassiman; E Legius; A Spaepen; C J Höweler
Journal: J Med Genet Date: 1992-03 Impact factor: 6.318

3. Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Authors: P J Willems; L Vits; P Raeymaekers; J Beuten; P Coucke; J J Holden; C Van Broeckhoven; S T Warren; M Sagi; D Robinson
Journal: Am J Hum Genet Date: 1992-08 Impact factor: 11.025

Review 4. X linked mental retardation.

Authors: I A Glass
Journal: J Med Genet Date: 1991-06 Impact factor: 6.318

X-linked mental retardation associated with bilateral clasp thumb anomaly.

1. Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11.

2. MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

3. Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Review 4. X linked mental retardation.

Review 5. X linked hydrocephalus and MASA syndrome.

6. MASA syndrome: further clinical delineation and chromosomal localisation.

7. X linked mental retardation: a family with a separate syndrome?

8. A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus.

9. X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

10. New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.