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Literature DB >> 3400736

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

G E Herman¹, F Greenberg, D H Ledbetter.

Abstract

We present a case of terminal del(22q) with Goldenhar complex including hemifacial microsomia, bilateral epibulbar dermoids, preauricular tags with sensorineural hearing loss, vertebral anomalies, and CNS and renal malformations. The case illustrates causal heterogeneity of the Goldenhar complex and a previously unreported associated chromosome deletion.

Entities: Disease

Mesh：

Year: 1988 PMID： 3400736 DOI： 10.1002/ajmg.1320290423

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

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Cited

13 in total

1. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

Authors: K F Doheny; H E McDermid; K Harum; G H Thomas; G V Raymond
Journal: J Med Genet Date: 1997-08 Impact factor: 6.318

2. RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.

Authors: H B Urnovitz; J J Tuite; J M Higashida; W H Murphy
Journal: Clin Diagn Lab Immunol Date: 1999-05

3. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Authors: D R Romain; J Goldsmith; H Cairney; L M Columbano-Green; R H Smythe; R G Parfitt
Journal: J Med Genet Date: 1990-09 Impact factor: 6.318

Review 4. Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

Authors: Andressa Barreto Glaeser; Bruna Lixinski Diniz; Desirée Deconte; Andressa Schneiders Santos; Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen
Journal: J Pediatr Genet Date: 2020-05-27

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).

1. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.

2. RNAs in the sera of Persian Gulf War veterans have segments homologous to chromosome 22q11.2.

3. Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

Review 4. Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review.

5. Two 22q telomere deletions serendipitously detected by FISH.

6. Syringohydromyelia as a complication of Goldenhar syndrome.

Review 7. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis.

8. The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.

9. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.

Review 10. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A.