ABSTRACT
Incontinentia pigmenti (IP) is an X-linked dominant disease, usually lethal to males. IP belongs to rare diseases involving skin pathological findings, together with neurological and ophthalmological disorders. We here report a two-year old girl with typical symptoms of the IP. A hitherto unreported feature is partial deletion of short arms of one of the chromosomes 15, found in the girl and in her mother. Using an automatic chromosome picture analyzer, a densitometric analysis of the aberration was carried out, in order to determine the break point and to compare the normal and deleted chromosomes.
Subject(s)
Chromosome Aberrations/genetics , Diagnosis, Computer-Assisted , Incontinentia Pigmenti/genetics , Pigmentation Disorders/genetics , Chromosome Deletion , Chromosome Disorders , Chromosomes, Human, Pair 15 , Densitometry , Female , Humans , Infant , KaryotypingABSTRACT
A 30-month-old boy with severe psychomotor retardation and numerous developmental anomalies, such as small trigonocephalic head, craniofacial anomalies, malformations of fingers with hypoplastic thumbs, anomalies of urogenital organs and imperforate anus, is presented. Cytogenetic studies of peripheral blood lymphocytes with differential staining of chromosomes revealed 46,XY,r13 karyotype. The correlation between clinical features and the observed chromosome aberration is discussed. Hitherto unreported developmental brain anomalies with partial exhibited skeletal abnormalities, some not reported previously.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations , Chromosomes, Human, 13-15 , Psychomotor Disorders/genetics , Ring Chromosomes , Agenesis of Corpus Callosum , Child, Preschool , Chromosome Banding , Facial Bones/abnormalities , Humans , Karyotyping , Lymphocytes/ultrastructure , Male , Muscle Hypotonia/genetics , Phenotype , SyndromeABSTRACT
Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter----14p12:17q12----17qter).
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 16-18 , Psychomotor Disorders/genetics , Trisomy , Chromosome Banding , Densitometry , Humans , Infant , Karyotyping , Lymphocytes/ultrastructure , MaleSubject(s)
Abnormalities, Multiple/diagnosis , Bone Diseases, Developmental/congenital , Dextrocardia/complications , Heart Defects, Congenital/complications , Situs Inversus , Acidosis, Renal Tubular/complications , Acidosis, Renal Tubular/congenital , Bone Diseases, Developmental/complications , Female , Humans , Infant , Situs Inversus/complications , SyndromeABSTRACT
The length of the Y chromosome with its fluorescent and non-fluorescent portion was measured in Q-banded metaphases. The same preparations were stained by Feulgen method. The DNA content and size of the Y chromosome were assessed. The length of Y chromosome was normalized by taking into account differences in contraction rate of the heterochromatin and euchromatin. It was indicated that polymorphism of the Y chromosome size and DNA content was correlated with change in length of both the heterochromatin and euchromatin.
