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Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.

作者信息

Migliori M V, Cherubini V, Bartolotta E, Pettinari A, Pecora R

机构信息

Laboratorio di Citogenetica, Ospedale Salesi, Ancona, Italy.

出版信息

Am J Med Genet. 1994 Jan 1;49(1):108-10. doi: 10.1002/ajmg.1320490121.

DOI:10.1002/ajmg.1320490121
PMID:8172236
Abstract

We report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation.

摘要

相似文献

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Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality.
Am J Med Genet. 1994 Jan 1;49(1):108-10. doi: 10.1002/ajmg.1320490121.
2
IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY,18p-).一名患有18号染色体短臂缺失（46,XY,18p-）的男孩，其IgA缺乏与生长激素缺乏相关。
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Clin Dysmorphol. 1993 Apr;2(2):106-13.
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Ring chromosome 16: a new case.16号环状染色体：一例新病例。
Ann Genet. 1990;33(1):36-9.
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[Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18].18号染色体结构和数目异常的核型与表型之间的相关性
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