Monosomy 5p

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

Cystic hygroma

A cystic lymphatic lesion of the neck.


合計: 1

                       


（表示件数）
PMID (PMCID)
27590389
 FEMALE Adult
Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.
Chen CP, Wang LK, Chern SR, Wu PS, Ko K, Chen YN, Chen SW, Lee MS, Wang W.
Taiwan J Obstet Gynecol. 2016;55(4):591-5.
Prenatal diagnosis of partial monosomy 5p (5p15.18594pter) and partial trisomy 7p (7p15.28594pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly.