A new case of deletion 1q42 syndrome.
We report a 1 8/12-year-old male with a de novo deletion of 1q42. The case is compared with 23 others from the literature. The clinical manifestations of our patient correspond with the phenotype of previous reports.
Tolkendorf
E
E
Clinic of Gynecology and Obstetrics, Department of Clinical Genetics, Medical Academy Carl Gustav Carus, Dresden, German Democratic Republic.
Hinkel
G K
GK
Gabriel
A
A
D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D005837:Genitalia, Male / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011596:Psychomotor Disorders / Q000235:genetics; D013577:Syndrome