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Translocation (Y;22) resulting in the loss of SHOX and isolated short stature.
Am J Med Genet A. 2004 Mar 01; 125A(2):186-90.AJ

Abstract

Chromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4-year-old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra-uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth-retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (-3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C-banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients.

Authors+Show Affiliations

Cytogenetics Unit, Hospital Robert Debre, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

14981722

Citation

Borie, C, et al. "Translocation (Y;22) Resulting in the Loss of SHOX and Isolated Short Stature." American Journal of Medical Genetics. Part A, vol. 125A, no. 2, 2004, pp. 186-90.
Borie C, Léger J, Dupuy O, et al. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. Am J Med Genet A. 2004;125A(2):186-90.
Borie, C., Léger, J., Dupuy, O., Hassan, M., Ledu, N., Lebbar, A., Czernichow, P., & Eydoux, P. (2004). Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. American Journal of Medical Genetics. Part A, 125A(2), 186-90.
Borie C, et al. Translocation (Y;22) Resulting in the Loss of SHOX and Isolated Short Stature. Am J Med Genet A. 2004 Mar 1;125A(2):186-90. PubMed PMID: 14981722.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. AU - Borie,C, AU - Léger,J, AU - Dupuy,O, AU - Hassan,M, AU - Ledu,N, AU - Lebbar,A, AU - Czernichow,P, AU - Eydoux,P, PY - 2004/2/26/pubmed PY - 2004/9/29/medline PY - 2004/2/26/entrez SP - 186 EP - 90 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 125A IS - 2 N2 - Chromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4-year-old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra-uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth-retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (-3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C-banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri-Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/14981722/Translocation__Y L2 - https://doi.org/10.1002/ajmg.a.20346 DB - PRIME DP - Unbound Medicine ER -