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Literature DB >> 6655673

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

S A Al-Awadi, T I Farag, K Naguib, A Teebi, A Cuschieri, S Al-Othman, T S Sundareshan.

Abstract

A child with a de novo interstitial deletion, 46,XX,del(2)(q31q33), is described. Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia, abnormal ears, overlapping fingers, simian creases, and rocker bottom feet.

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6655673 PMCID： PMC1049184 DOI： 10.1136/jmg.20.6.464

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

3 in total

1. [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

Authors: S Warter; C Lausecker; A Pennerath
Journal: Hum Genet Date: 1976-05-19 Impact factor: 4.132

2. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Authors: J P Fryns; B Van Bosstraeten; H Malbrain; H Van den Berghe
Journal: Hum Genet Date: 1977-11-10 Impact factor: 4.132

3. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

Authors: J German; R S Chaganti
Journal: Science Date: 1973-12-21 Impact factor: 47.728

3 in total

6 in total

1. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

Authors: P E Lundbech; T Thøgersen
Journal: Hum Genet Date: 1989-04 Impact factor: 4.132

Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).

1. [A girl with a deletion (2) (q34q36): cytogenetic and clinical observations (author's transl)].

2. Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

3. Mapping human autosomes: assignment of the MN locus to a specific segment in the long arm of chromosome no. 2.

1. Unbalanced translocation between chromosomes 2 and 7 with de novo deletion of band 35 on the long arm of chromosome 2.

2. Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

3. Mouse and hamster mutants as models for Waardenburg syndromes in humans.

4. Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3).

5. Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

6. Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.