Pericentric inversion of chromosome 11 in one of two similar retarded brothers.

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Pericentric inversion of chromosome 11 in one of two similar retarded brothers.

We report two brothers, aged 2k and 4i, with similar features, namely developmental delay, short stature, and small delicate facies. Chromosome analysis revealed a pericentric inversion of chromosome 11 in one boy and a normal karyotype in the other. The father was shown to be the carrier of this pericentric inversion. Two brothers with mental retardation, particularly in the area of speech dev...

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Goldenhar Syndrome and Pericentric Inversion of Chromosome 9

Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...

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Two pericentric inversions of human chromosome 11.

A pericentric inv(11) (pl5q23) detectable by G-, Q-, and R-banding and occuring in 1 member of each of 3 generations of a family is described. In another family studied by several banding methods in search of chromosomal markers, a pericentric inv(11) (p11q11) was found. It was detectable only by C-banding, the darkly staining band being located on the short-arm side of the centromere. The reas...

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High resolution of a small pericentric inversion of chromosome 11.

A pericentric inversion 11 (p11q13.3) segragating in two generations is described. A high degree of resolution of the inversion was achieved by using prophase and prometaphase chromosomes from methotrexate-synchronised cells. The inversion occurred in a mother and three of her ten children. It had no detectable clinical consequences.

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1982

ISSN: 1468-6244

DOI: 10.1136/jmg.19.4.312