Shprintzen syndrome

velocardiofacial syndrome

[MIM*192430] a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance. Synonym(s): Shprintzen syndrome

velocardiofacial syndrome

Catch-22 syndrome

An uncommon synonym for 22q11.2 deletion syndrome, which affects 1 in 4,000 and is characterised by cleft palate, congenital heart defects, learning disabilities, and nearly 200 possible other clinical findings, including head and neck deformities.
Diagnosis
FISH

Shprintzen syndrome

VCf syndrome, velo-cardio-facial syndrome A congenital anomaly with cleft palate, heart defect, abnormal face, learning defects, short stature, microcephaly, mental retardation, ear anomalies, slender hands/digits, inguinal hernia.

Shprintzen,

Robert J., 20th century U.S. geneticist. Shprintzen syndrome - Synonym(s): velocardiofacial syndrome

单词	shprintzen syndrome
释义	Shprintzen syndrome velocardiofacial syndrome [MIM192430] a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance. Synonym(s): Shprintzen syndrome velocardiofacial syndrome [MIM192430] a syndrome with hypernasal speech, dysmorphic facial features (long midface, cylindric nose, downward turned corners of mouth), and cardiac abnormalities; same chromosomal abnormality as seen in DiGeorge syndrome (q.v.) (a microdeletion in chromosome 22q11); dominant inheritance. Synonym(s): Shprintzen syndrome Catch-22 syndrome An uncommon synonym for 22q11.2 deletion syndrome, which affects 1 in 4,000 and is characterised by cleft palate, congenital heart defects, learning disabilities, and nearly 200 possible other clinical findings, including head and neck deformities. Diagnosis FISH Shprintzen syndrome VCf syndrome, velo-cardio-facial syndrome A congenital anomaly with cleft palate, heart defect, abnormal face, learning defects, short stature, microcephaly, mental retardation, ear anomalies, slender hands/digits, inguinal hernia. Shprintzen, Robert J., 20th century U.S. geneticist. Shprintzen syndrome - Synonym(s): velocardiofacial syndrome
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