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.

Ventriculomegaly

An increase in size of the ventricular system of the brain.


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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.
11810654
 FEMALE Adult
Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.
Stefanou EG, Hanna G, Foakes A, Crocker M, Fitchett M.
Prenat Diagn. 2002;22(1):64-6.
Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.