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.

Inguinal hernia

Protrusion of the contents of the abdominal cavity through the inguinal canal.


Total: 1

                      


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PMID (PMCID)
2671452
MALE Infant
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1).
Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S.
Jinrui Idengaku Zasshi. 1989;34(2):129-34.
The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome.