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Literature DB >> 457112

Monosomy 10qter.

C Turleau, J de Grouchy, G Ponsot, D Bouygues.

Abstract

An 11-year-old girl with 10q26qter deletion is described and compared with another patient reported in the literature. The most characteristic features of monosomy 10qter seem to be: severe mental retardation; growth retardation; microcephaly; and facial dysmorphism with a long and triangular facies, a broad and prominent nasal bridge, a poorly developed tip of the nose, a short philtrum, and flattened angles of the mandible. Several of these features are opposed in type and countertype to features of trisomy 10qter.

Entities: Disease Species

Mesh：

Year: 1979 PMID： 457112 DOI： 10.1007/bf00321014

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

4 in total

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

Authors: J P Fryns; K De Boeck; J Jaeken; H van den Berghe
Journal: Hum Genet Date: 1978-08-31 Impact factor: 4.132

2. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

Authors: S Lansky; W Daniel; K Fleiszar
Journal: J Med Genet Date: 1977-02 Impact factor: 6.318

3. Ring 10 chromosome: 46,XX,r10(p15q26).

Authors: R S Sparkes; S M Ling; H Muller
Journal: Hum Genet Date: 1978-09-19 Impact factor: 4.132

4. Partial deletion 10q.

Authors: R C Lewandowski; M K Kukolich; J W Sears; C B Mankinen
Journal: Hum Genet Date: 1978-06-27 Impact factor: 4.132

4 in total

6 in total

1. Terminal deletion of the long arm of chromosome 10.

Authors: H Curtis; R T Howell; C Cope
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

2. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

Authors: J Brusnický; K M van Heerden; G de Jong; A S Cronjé; A E Retief
Journal: J Med Genet Date: 1986-10 Impact factor: 6.318

Monosomy 10qter.

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

2. Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.

3. Ring 10 chromosome: 46,XX,r10(p15q26).

4. Partial deletion 10q.

1. Terminal deletion of the long arm of chromosome 10.

2. Severe mental retardation in six generations of a large South African family carrying a translocation t(6;10)(q27;q25.2).

3. A case of interstitial deletion of 10q25.2----q26.1.

4. Chromosomes of human sperm: variability among normal individuals.

5. Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.

Review 6. Intellectual disability: dendritic anomalies and emerging genetic perspectives.