Chromosome abnormalities and genetic cou
โ Hassed, Susan
๐ Article
๐
1997
๐ John Wiley and Sons
๐ English
โ 1 KB
๐ 2 views
โฆ LIBER โฆ
Hemifacial microsomia and abnormal chromosome 22
โ Scribed by Hathout, Eba H.; Elmendorf, Edward; Bartley, James
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 9 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980226)76:1<71::aid-ajmg13>3.0.co;2-m
No coin nor oath required. For personal study only.
โฆ Synopsis
We report on partial dup(22q), growth deficiency, and the facioauriculovertebral sequence including hemifacial microsomia, cleft lip and palate, preauricular tags, and hearing loss in one patient. No endocrine or systemic cause for growth deficiency was identified. The case illustrates applicability of chromosome analysis in syndromeassociated growth failure, and a previously unreported associated chromosome abnormality.
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๐ 1 views
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โ 1 KB
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โ Aleck, Kyrieckos A.; Argueso, Luis; Stone, John; Hackel, Joseph G.; Erickson, Ro
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๐ John Wiley and Sons
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โ 18 KB
๐ 1 views
We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22. Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY. We conclude that there are g