Interstitial 1q21. 1 microdeletion is associated with severe skeletal anomalies, dysmorphic face and moderate intellectual disability
BF Gamba, RM Zechi-Ceide… - Molecular …, 2016 - karger.com
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.
1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft
lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis,
abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies,
and delayed neuropsychological development. Deletions reported in this region are
clinically heterogeneous, ranging from subtle phenotypic manifestations to severe …
1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft
lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis,
abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies,
and delayed neuropsychological development. Deletions reported in this region are
clinically heterogeneous, ranging from subtle phenotypic manifestations to severe …
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