This work describes a clinical case of a violation of sex formation in a newborn child with Y-
chromosome dysomy. The diagnostic challenges related to Y-chromosome variability and …

Objective: The XYY syndrome is a rare chromosomal aneuploidy that affects males with an
incidence of 1 in 1000. Males with this syndrome typically appear normal and have normal …

Jacob's or 47, XYY syndrome is the second common sex chromosomal disorder seen in
males next to Kline Felter syndrome characterized by the presence of an extra Y …

Karyotype investigations using classical cytogenetics, fluorescence in situ hybridization
(FISH) and polymerase chain reaction (PCR) techniques were used for the characterization …

A 45, X karyotype was found in a boy with dysmorphic features, hypoglycaemia and
pancytopenia. DNA analysis showed the presence of the Y-chromosomal DNA sequences …

Background Jacob's syndrome also recognized as XYY, is a rare genetic condition seen in
about 1 out of 1000 male children that belongs to sex chromosome trisomies [1]. The …

The Jacobs' syndrome consists in the presence of a Y chromosome in excess. The
prevalence of XYY sex chromosome abnormalities in newborns is as high as 1: 1000, but …

We describe three cases in which we used fluorescence in situ hybridization (FISH),
polymerase chain reaction (PCR) and comparative genomic hybridization (CGH) to …

A case with 47, XXY, del (11)(q23) karyotype-coexistence of Jacobsen and Klinefelter
syndromes: A two-year-old dysmorphic male child was found to have 47, XXY, del (11)(q23) …

A newborn infant was referred for evaluation because of ambiguous genitalia. Examination
of the genitalia revealed a hypospadiac phallus measuring 1.5 cm in length with chordee …