Anal atresia, abnormal genitalia, and absent thumb : congenital malformations associated with mosaic ring chromosome 13
Küçük Resim Yok
Tarih
2013
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Anal atresia, abnormal genitalia, and absent thumb: congenital malformations associated with mosaic ring chromosome 13: Because of the deletion of a segment of the chromosome during the formation of a ring, several clinical findings may be associated with ring chromosomes. Ring chromosome 13 is one of such disorders in which the genotype-phenotype correlation is stronger by virtue of the accumulating literature. It can be associated with multiple congenital abnormalities and severe mental retardation. We report a case with mosaic ring chromosome 13 whose prenatal ultrasound revealed bilateral ventriculomegaly. Anal atresia, unidentifiable external genitalia, and an absent thumb were observed in the postmortem examination.
Açıklama
Anahtar Kelimeler
Abnormal Genitalia, Absent Thumb, Anal Atresia, Mosaic, Ring Chromosome 13
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
24
Sayı
2
