Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.
We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.
Dalal
Ashwin B
AB
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India. ashwindalal@gmail.com
Sarkar
Anujit
A
Priya
T Padma
TP
Nandineni
Madhusudan R
MR
D005260:Female; D005799:Genes, Dominant; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D012600:Scoliosis / Q000235:genetics* / Q000473:pathology; D013577:Syndrome; D013580:Synostosis / Q000235:genetics* / Q000473:pathology