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Biomedical subjects

Z M Patel

Publications and source records attributed to Z M Patel.

36 records · Page 2Linked to original sources
PubMed1980

I-cell disease.

A 6-month-old female infant presented with severe psychomotor retardation, coarse facies, gingival hyperplasia, thick skin, restricted joint movements and radiological features suggestive of the Hurler syndrome. Her urine showed no excess excretion of mucopolysaccharides. I-cell disease was suspected from the onset of clinical features in early infancy, the subsequent progress and the absence of mucopolysacchariduria. Marked elevation of the activity in serum of three lysosomal enzymes confirmed the diagnosis. This patient had repeated convulsions, a feature not previously reported in this condition. This is the first case report of I-cell disease from India.

Acetylglucosaminidase↗
PubMed1980

Trisomy 18q: 46,XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46,XY,-13,+der(13),t(13;18)(q32;q11).

A 20-day-old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46,XX,13q+,t(13;18)(q32;q11)pat resulting in partial trisomy 18q. Her father and a 5-year-old sister were phenotypically normal, balanced translocation carriers, 46,XY,-13,+der(13),t(13;18)(q32;q11) and 46,XX,-13,+der(13),t(13;18)(q32;q11), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.

Abnormalities, Multiple↗
PubMedDate not supplied

William syndrome.

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Adolescent↗