Tags

Type your tag names separated by a space and hit enter

A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.
Genet Couns. 2005; 16(2):173-7.GC

Abstract

A dysmorphic newborn with 45,x,der(1)inv(1)(p13;qter)t(y;1)(pter-->q11;p13),-Y de novo karyotype: Y/autosome translocations are very rare chromosomal rearrangements. In most cases, the long arm of the Y chromosome is translocated onto an autosome and most patients are referred because of male infertility. Y/1 translocations are very rare, and have been reported in seven patients so far. Pericentric inversions may be seen in all chromosomes and are not associated with phenotypic abnormalities. Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes. Cytogenetic analysis was performed with GTG-banding, C-banding and FISH analysis containing X centromeric probe, Yq12-qter locus specific probe and whole chromosome Y probe. An unbalanced Y/1 translocation was diagnosed: 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y.

Authors+Show Affiliations

Department of Medical Genetics, Ataturk University Faculty of Medicine, Erzurum, Turkey. abdulganitatar@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16080298

Citation

Tatar, A, et al. "A Dysmorphic Newborn With 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y De Novo Karyotype." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 2, 2005, pp. 173-7.
Tatar A, Oztas S, Yakut T, et al. A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype. Genet Couns. 2005;16(2):173-7.
Tatar, A., Oztas, S., Yakut, T., & Ors, R. (2005). A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype. Genetic Counseling (Geneva, Switzerland), 16(2), 173-7.
Tatar A, et al. A Dysmorphic Newborn With 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y De Novo Karyotype. Genet Couns. 2005;16(2):173-7. PubMed PMID: 16080298.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype. AU - Tatar,A, AU - Oztas,S, AU - Yakut,T, AU - Ors,R, PY - 2005/8/6/pubmed PY - 2006/1/13/medline PY - 2005/8/6/entrez SP - 173 EP - 7 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 16 IS - 2 N2 - A dysmorphic newborn with 45,x,der(1)inv(1)(p13;qter)t(y;1)(pter-->q11;p13),-Y de novo karyotype: Y/autosome translocations are very rare chromosomal rearrangements. In most cases, the long arm of the Y chromosome is translocated onto an autosome and most patients are referred because of male infertility. Y/1 translocations are very rare, and have been reported in seven patients so far. Pericentric inversions may be seen in all chromosomes and are not associated with phenotypic abnormalities. Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes. Cytogenetic analysis was performed with GTG-banding, C-banding and FISH analysis containing X centromeric probe, Yq12-qter locus specific probe and whole chromosome Y probe. An unbalanced Y/1 translocation was diagnosed: 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16080298/A_dysmorphic_newborn_with_45Xder_1_inv_1__p13 L2 - http://www.diseaseinfosearch.org/result/7268 DB - PRIME DP - Unbound Medicine ER -