Tags

Type your tag names separated by a space and hit enter

A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome.
Am J Med Genet A 2005; 134(4):434-8AJ

Abstract

We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously. The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, low set malformed and posteriorly rotated ears) showed resemblance to the Brachmann-de Lange syndrome (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS. There has been only one report of a direct triplication of chromosome 3 until now, but in our case the triplicated area is larger, located more proximally, and includes the hypothetical BDLS critical gene region-CDL1. Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS.

Authors+Show Affiliations

Medical Genetics Center, United Laboratories, Tartu University Clinics, Tartu, Estonia. katrin.ounap@kliinikum.eeNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15793836

Citation

Ounap, Katrin, et al. "A Girl With Inverted Triplication of Chromosome 3q25.3 --> Q29 and Multiple Congenital Anomalies Consistent With 3q Duplication Syndrome." American Journal of Medical Genetics. Part A, vol. 134, no. 4, 2005, pp. 434-8.
Ounap K, Ilus T, Bartsch O. A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. Am J Med Genet A. 2005;134(4):434-8.
Ounap, K., Ilus, T., & Bartsch, O. (2005). A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. American Journal of Medical Genetics. Part A, 134(4), pp. 434-8.
Ounap K, Ilus T, Bartsch O. A Girl With Inverted Triplication of Chromosome 3q25.3 --> Q29 and Multiple Congenital Anomalies Consistent With 3q Duplication Syndrome. Am J Med Genet A. 2005 May 1;134(4):434-8. PubMed PMID: 15793836.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome. AU - Ounap,Katrin, AU - Ilus,Tiiu, AU - Bartsch,Oliver, PY - 2005/3/29/pubmed PY - 2005/6/28/medline PY - 2005/3/29/entrez SP - 434 EP - 8 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 134 IS - 4 N2 - We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q) syndrome previously. The facial appearance (hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, low set malformed and posteriorly rotated ears) showed resemblance to the Brachmann-de Lange syndrome (BDLS), but the patient did not fulfill the diagnostic criteria for BDLS. There has been only one report of a direct triplication of chromosome 3 until now, but in our case the triplicated area is larger, located more proximally, and includes the hypothetical BDLS critical gene region-CDL1. Our findings lend support to distal chromosome 3q, or chromosome 3q26.3, comprises the critical area for the dup(3q) phenotype resembling the BDLS. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15793836/A_girl_with_inverted_triplication_of_chromosome_3q25_3___&gt L2 - https://doi.org/10.1002/ajmg.a.30134 DB - PRIME DP - Unbound Medicine ER -