We report six persons mosaic for a chromosome anomaly. All were mentally retarded and dysmorphic. Unilateral or asymmetrical features were found in all cases, in one an unusual transverse terminal limb anomaly, and in the others various degrees of hemiatrophy of the left side of the body. Five of the subjects had skin pigmentary anomalies which were distributed in the lines of Blaschko. The abn...

To investigate numerical aberrations of chromosome 17 and the p53 locus in early stages of hepatocellular carcinoma (HCC), 12 fresh-frozen specimens of small HCCs (less than 30 mm in size) were examined by dual-color fluorescence in situ hybridization. We used a chromosome 17 alpha-satellite DNA probe and a p53 locus-specific DNA probe. We also performed immunohistochemical analysis for p53 pro...

We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously ...

Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...

Pelger-Huet anomaly is a rare autosomal dominant disorder characterized by pince-nez appearance of the nuclei of the neutrophils. This is caused by failure of nuclear segmentation due to genetic defect in the LBR (laminin B-receptor) on the chromosome 1q41-43. Heterozygotes have dumbbell-shaped or hyposegmented neutrophils with coarse chromatin and normal granules. Homozygotes have neutrophils ...

Ring chromosome 22 [r(22)], a rare cytogenetic finding, has been described in nearly 70 cases to date. Cytogenetic investigations were carried out on a 5-year-old male child with microcephaly and intellectual disability. Cytogenetic investigations revealed his karyotype to be 46,XY,r(22). To the best of our knowledge, this is the first report of an r(22) anomaly from India.

A family with proximal radioulnar synostosis segregating in three generations is described. Familial radioulnar synostosis is a rare anomaly; however, the sporadic form is a frequent feature in cases of sex chromosome abnormalities and other syndromes. This disorder has been reported in several ethnic groups, but this is apparently the first example from the black population.

Variations in the human karyotype have been found in association with a variety of congenital anomalies and also in the normal population (Miller and Mukherjee, 1962; Court Brown, 1967). Court Brown's population studies (1967) have revealed that between 2 and 3%o of the normal adult population has a karyotype with structural autosomal variations. Occasionally, homologous autosomes reveal differ...