1q44 microdeletion syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Cryptorchidism

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.


合計: 1

                       


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PMID (PMCID)
9856570
 MALE Adult
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.
Hathout EH, Thompson K, Baum M, Dumars KW.
Am J Med Genet. 1998;80(4):396-8.
We report on del(1)(q44), developmental delay, cryptorchidism, and seizure disorder in a 19-year-old man.