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.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


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(per page)
PMID (PMCID)
25756154
FEMALE Child
Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.
Mysliwiec M, Panasiuk B, Dbiec-Rychter M, Iwanowski PS, Lebkowska U, Nowakowska B, Marcinkowska A, Stankiewicz P, Midro AT.
Am J Med Genet A. 2015;167A(2):445-9.
Co-segregation of Freiberg's infraction with a familial translocation t(5; 7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.