The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'c...

Here we describe a rare case of an abnormal karyotype with supernumerary derivative chromosome der(22)t(11;22), associated Emanuel syndrome, in boy aged 1 year. Familial cytogenetic analysis revealed the maternal origin anomaly from reciprocal translocation t(11;22) (q23;q11.2). At time examination, child had numerous anomalies development, facial dysmorphia, and small size external genitalia. ...

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

Six cases of epilepsy associated with ring chromosome 20 are presented. The study of these cases and 20 cases reported in the literature revealed that they constitute a distinct epileptic syndrome: frequent seizures consisting of a prolonged confusional state, with or without additional motor seizures, and an ictal EEG pattern of long-lasting bilateral paroxysmal high-voltage slow waves with oc...

Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...

We describe the first postnatal diagnosis of a child from Central Brazil with de novo cytogenetic alterations in 13q showing malformations of the brain, eyes, distal limbs, and genitourinary tract, and severe intellectual disability. The karyotype was a constitutive 46,XX,r(13)[77]/45,XX,-13[17]/46,XX,idic r(13)[6]. Interphase and metaphase fluorescence in situ hybridization analyses also showe...

Optical properties of ultrathin layers (<50 A) of Au and Pb quench condensed on amorphous germanium (alpha-Ge) have been measured in situ at 10 K. The development of these films from an insulating state to a metallic state is traced as a function of the film thickness as well as the sheet resistance, R(square). Of particular interest is the regime of R(square) near 3000 Omega where there is an ...

Identity Alias: 17p syndrome in myeloïd malignancies Note: Recently, we and others reported in ANLL and MDS a strong correlation between 17p deletion (a clonal cytogenetic anomaly consisting of a deletion of the short arm of chromosome 17), and a particular form of morphological dysgranulopoiesis, we also found in such cases a strong correlation between 17p deletion and p53 mutation; these corr...

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary a...