Review
A case of interstitial 1q deletion [46,XY,del(q25q32.1)]
Affiliations
- PMID: 3314663
Item in Clipboard
Review
A case of interstitial 1q deletion [46,XY,del(q25q32.1)]
Ann Genet.
1987.
Abstract
A 10-year-old male with interstitial deletion of chromosome 1[46,XY,del(1)(q25q32.1)] is reported. Clinical features of the patient included dwarfism, severe mental retardation, microcephaly, flat nasal bridge, low-set ears, short neck, brachydactyly, clinodactyly of the 5th fingers and bilateral cryptorchidism. Comparison of phenotypic characteristics of the present case with those of six cases previously described with similar deletions of chromosome 1 permits the delineation of an identifiable syndrome.
Similar articles
-
Interstitial deletion of 17p11.2: case report and review.Ann Genet. 1988;31(1):36-8. Ann Genet. 1988. PMID: 3281568 Review.
-
A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.Am J Med Genet. 1990 Dec;37(4):471-4. doi: 10.1002/ajmg.1320370409. Am J Med Genet. 1990. PMID: 2260590 Review.
-
Distal del(4) (q33) syndrome: detailed clinical presentation and molecular description with array-CGH.Eur J Med Genet. 2008 Jan-Feb;51(1):61-7. doi: 10.1016/j.ejmg.2007.09.004. Epub 2007 Oct 2. Eur J Med Genet. 2008. PMID: 17998173
-
Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3)).Am J Med Genet. 1992 Nov 15;44(5):551-4. doi: 10.1002/ajmg.1320440503. Am J Med Genet. 1992. PMID: 1481806
-
A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.Eur J Med Genet. 2009 Nov-Dec;52(6):443-5. doi: 10.1016/j.ejmg.2009.09.003. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772933
Cited by
-
Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies.Genes (Basel). 2025 Mar 7;16(3):319. doi: 10.3390/genes16030319. Genes (Basel). 2025. PMID: 40149470 Free PMC article.