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A coloboma (small missing segment) of the iris may be present sporadically, or due to a developmental anomaly, or be a marker of an underlying chromosome disorder (figure 4) such as cat-eye syndrome (caused by an extra segment of chromosome 22, and having ocular coloboma and anal atresia). Chromosomal abnormalities x chromosome duplication (47, xxy) and translocation 46xx t(3q4q) juan manuel aparicio-rodrguez 1,8, ma. A marker chromosome, abbreviated as mar by iscn 2013, is a structurally abnormal chromosome. Such marker chromosomes are mainly detected by conventional banding cytogenetics. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Gi abnormalities (3) 1) duodenal atresia 2) celiac disease 3) hirschprung disease. 46xx not done cah ambiguous genitalia 21-hydroxylase deficiency female pseudohermaphroditism 4 13 normal female, enlarged rectum yes 46xx normal 17-ohp ursms ursms anal atresia, vesico-rectal fistula 27 pseudo phallus, enterolithiasis 5 24 pseudo phallus yes 46xx normal 17-ohp ursms ursms-ex male pseudohermaphrodism 6 13. B syndrome cases report with two chromosomal abnormalities x chromosome duplication (47, xxy) and translocation 46xx t. In the 20 cases in which chromosomal analyses were done, no structural or numerical abnormalities were observed, and the chromosomal sex was always concordant with the gonadal sex. None of these patients had evidence of hormonal abnormalities or true hermaphroditism, defined as the presence of both ovarian and testicular tissue. If the karyotype is 46,xy and there are other somatic abnormalities andor autosomal chromosome abnormalities, the differential diagnosis depends on defining these associated defects. Abnormalities of the internal genitalia were also common, with. Most common human congenital brain defect (1 in 10,000) autosomal dominant mostly, shh mutations causing a failure of mid face and forebrain to develop.