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Duplication of chromosome 4q: renal pathology of two siblings.
Am J Med Genet A 2005; 134(3):330-3AJ

Abstract

We report on two sibs with partial 4q trisomy: dup (4)(q35.2-q31.22) and their renal biopsy findings. Both of them show renal hypoplasia, although their chromosomal aberration lacks the minimal duplicated region 4q22-q23 and/or 4q25-q31.3, which had been shown to be associated with urogenital abnormalities and thumb malformations in previous reports. From the renal biopsy findings, the two sibs were diagnosed as oligonephronia. We summarize the 13 having published cases of duplication of chromosome 4q, and examine which segments have a close relationship to renal hypoplasia. We suggest that renal hypoplasia may be female-prone, and may have a close relationship with duplication of 4q33-q34.

Authors+Show Affiliations

Department of Pediatrics, Niigata National Hospital, Niigata, Japan. ootsuka@niigata-nh.go.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15732061

Citation

Otsuka, Taketo, et al. "Duplication of Chromosome 4q: Renal Pathology of Two Siblings." American Journal of Medical Genetics. Part A, vol. 134, no. 3, 2005, pp. 330-3.
Otsuka T, Fujinaka H, Imamura M, et al. Duplication of chromosome 4q: renal pathology of two siblings. Am J Med Genet A. 2005;134(3):330-3.
Otsuka, T., Fujinaka, H., Imamura, M., Tanaka, Y., Hayakawa, H., & Tomizawa, S. (2005). Duplication of chromosome 4q: renal pathology of two siblings. American Journal of Medical Genetics. Part A, 134(3), pp. 330-3.
Otsuka T, et al. Duplication of Chromosome 4q: Renal Pathology of Two Siblings. Am J Med Genet A. 2005 Apr 30;134(3):330-3. PubMed PMID: 15732061.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Duplication of chromosome 4q: renal pathology of two siblings. AU - Otsuka,Taketo, AU - Fujinaka,Hidehiko, AU - Imamura,Masaru, AU - Tanaka,Yasuki, AU - Hayakawa,Hiroshi, AU - Tomizawa,Shuichi, PY - 2005/2/26/pubmed PY - 2005/5/10/medline PY - 2005/2/26/entrez SP - 330 EP - 3 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 134 IS - 3 N2 - We report on two sibs with partial 4q trisomy: dup (4)(q35.2-q31.22) and their renal biopsy findings. Both of them show renal hypoplasia, although their chromosomal aberration lacks the minimal duplicated region 4q22-q23 and/or 4q25-q31.3, which had been shown to be associated with urogenital abnormalities and thumb malformations in previous reports. From the renal biopsy findings, the two sibs were diagnosed as oligonephronia. We summarize the 13 having published cases of duplication of chromosome 4q, and examine which segments have a close relationship to renal hypoplasia. We suggest that renal hypoplasia may be female-prone, and may have a close relationship with duplication of 4q33-q34. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15732061/Duplication_of_chromosome_4q:_renal_pathology_of_two_siblings L2 - https://doi.org/10.1002/ajmg.a.30643 DB - PRIME DP - Unbound Medicine ER -