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Vahabi A, Hazan F, Rad IA. A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. Maedica (Bucur). 2017;12(1):55-58
Vahabi, A., Hazan, F., & Rad, I. A. (2017). A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. Maedica, 12(1), 55-58.
Vahabi, Ali, et al. "A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42." Maedica vol. 12,1 (2017): 55-58.
Vahabi A, Hazan F, Rad IA. A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42. Maedica (Bucur). 2017 Jan;12(1):55-58. PMID: 28878839; PMCID: PMC5574076.
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Maedica (Bucur). 2017 Jan;12(1):55-58.

A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.

Maedica

Ali Vahabi, Filiz Hazan, Isa Abdi Rad

Affiliations

  1. Assistant Professor of Medical Genetics, Department of Medical Genetics, Motahrai Hospital, Urmia University of Medical Sciences, Iran.
  2. Assistant Professor of Medical Genetics, Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
  3. Professor of Neurogenetics, Department of Medical Genetics, Motahrai Hospital, Urmia University of Medical Sciences, Iran.

PMID: 28878839 PMCID: PMC5574076

Abstract

We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and posteriorly rotated ears, long philtrum, anteverted nares, retrognathia and unilateral undescended testis. Chromosomal analysis revealed partial monosomy of 9p24 associated with partial trisomy of 1q42q>ter.

References

  1. Cytogenet Cell Genet. 1976;17(5):296-7 - PubMed
  2. J Med Genet. 1988 Nov;25(11):741-9 - PubMed
  3. Eur J Pediatr. 1980 Sep;134(3):201-4 - PubMed
  4. Ann Genet. 1973 Mar;16(1):17-22 - PubMed
  5. Ann Genet. 1980;23(1):26-30 - PubMed
  6. Med J Malaysia. 2010 Sep;65(3):215-7 - PubMed
  7. Clin Genet. 1985 Nov;28(5):375-84 - PubMed
  8. Ir J Med Sci. 1981 Dec;150(12):382-4 - PubMed
  9. Ann Genet. 1976 Mar;19(1):11-6 - PubMed
  10. Mol Hum Reprod. 2007 Sep;13(9):685-9 - PubMed
  11. Birth Defects Orig Artic Ser. 1976;12(5):151-5 - PubMed

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