q 6pter-p24 Deletion. FOXC1. 6p 6q Deletion 9q Deletion / Kleefstra 21q Holoprosencephaly 2. Down syndrome critical region, 21q22 duplication. Feingold syndrome, 2p deletion. Holoprosencephaly 1, 21q deletion. () (PMID: ) identified 3 individuals with deletions involving LSS - one deletion of LSS alone, and two other deletions involving both LSS and TMEM1.
Deletion of the 21q section may be the first heart defects [3 patients], holoprosencephaly [3 patients], arthrogryposis [3 patients]. 21qCNV Type: Deletion-Duplication · Summary Information · Additional Locus Information · References. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed a Mb deletion at 21q The parental karyotypes.
22q deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome Human phenotypes related to 21qq Microdeletion Syndrome: ; 2, intellectual disability · Frequent (33%) ; 3, seizure · Frequent (33%) ; 4, coarse facial. 21q deletion has been associated with a wide range of clinical signs, from very mild to severe phenotypes, and with the progress of genetic technology.