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Mild phenotypic manifestations of terminal deletion of the long arm of chromosome 4: clinical description of a new patient
Author(s) -
Caliebe A.,
Waltz S.,
Jenderny J.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02528.x
Subject(s) - long arm , facial dysmorphism , phenotype , karyotype , genetics , chromosome , growth retardation , terminal (telecommunication) , biology , speech delay , medicine , gene , pregnancy , telecommunications , computer science
We present clinical and developmental data on a patient with a de novo terminal deletion of the long arm of chromosome 4. Cytogenetic studies after G‐banding revealed the karyotype 46,XY,del(4)(q34). The 4‐year‐old male showed mild facial dysmorphism, moderate mental retardation with speech retardation, and marked deficits in gross motor skills. Our patient is the second with this deletion described in the literature. In both patients the phenotype was characterized by mild to moderate mental retardation, abnormalities of the pinnae, and nonspecific facial dysmorphism. The mild phenotype might explain why only two patients with this deletion have been described so far.