A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia
نویسندگان
چکیده
منابع مشابه
A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report
Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...
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INTRODUCTION Ambiguous Genitalia is a form of birth defect in which sex of the newborn cannot be readily distinguishable because of atypical appearance of the external genitalia. CASE REPORT-CLINICAL FINDINGS The patient, an 8 months old baby, was identified as a female baby since birth; but, some senior members of their neighborhood raised confusion regarding sex differentiation of the child...
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* This paper is a selective précis from a forthcoming full study of the Baubo affair in all its aspects philological, medical, religious and philosophical. Parts I and III were written by A.L. Pierris; part II from N.A. Georgopoulos and G.A. Vagenakis. Demeter wanders over the wide earth, sorrowful and lamenting, in search of her. Her quest is in vain. The great Goddess finally arrives at Eleus...
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Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
متن کاملA Case with late onset of ambiguous genitalia
BACKGROUND Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development. CASE In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes in...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2020
ISSN: 1434-5161,1435-232X
DOI: 10.1038/s10038-020-0748-4