Abstract
The relationship between phenotype and Xq duplications in females remains unclear. Some females are normal; some have short stature; and others have features such as microcephaly, developmental delay/mental retarda­tion, body asymmetries, and gonadal dysgenesis. Some features in these females resemble those in Turner syn­drome. We, herein, presented a 15 years-old girl with short stature and primary amenorrhea, who was referred to cytogenetic laboratory. Through karyotipe analysis per­formed by Giemsa banding technique, the patient was determined to have positive Barr body and 46,XX,dup(X)(q21.3q24) chromosomal constitution. Case was dis­cussed according to information of present literatures.
References
- Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A 2005; 15:308-313.
- Hou JW, Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family. Chang Gung Med J 2004; 27:685-690.
- Armstrong L. McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnor- mal phenotype. Am J Med Genet A 2003;116:71-76.
- Correa-Cerro L, Garcia-Cruz D, Ruiz MX, Sanchez-Corona J. De novo duplication Xq22-q23 in a girl with short stature and gonadal dysgenesis. Ann Genet. 1999;42:41-44.
- Sanlaville D, Schluth-Bolard C, Turleau C. Distal Xq du- plication and functional Xq disomy. Orphanet J Rare Dis 2009; 20:4-5.
- Lüleci G, Başaran S, Bağcı G, Keser İ. Sitogenetik Uygu- lama Yöntemleri. Metaksan A.Ş. Ankara: 1990:1-18.
- Tihy F. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. Am J Med Genet 1999; 87:302–305.
Abstract
X kromozomu uzun kolunun duplikasyonu ile fenotipik bulgular arasındaki ilişki kızlarda tam olarak aydınlatıla­mamıştır. Daha önce bildirilen vakalardaki fenotipik bul­gular; bazı kızlarda normal görülürken, bazılarında ise kısa boy, mikrosefali, mental motor retardasyon, vücut asimetrisi ve gonadal disgenezi şeklindedir. Turner send­romunda görülen dismorfik bulgular da bu hastalarda gö­rülebilmektedir. Bu çalışmada, sitogenetik laboratuvarımı­za kısa boy ve primer amenore nedeniyle gönderilen 15 yaşındaki bir kız olgu tartışılmıştır. Olgunun Barr cisimciği pozitif bulunmuş ve Giemza bantlama tekniği ile yapılan karyotip analizinde 46,XX,dup(X)(q21.3q24) kromozom kuruluşu saptanmış­tır. Konu mevcut literatür bilgileri ışığında tartışılmıştır.
References
- Cheng SF, Rauen KA, Pinkel D, Albertson DG, Cotter PD. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A 2005; 15:308-313.
- Hou JW, Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family. Chang Gung Med J 2004; 27:685-690.
- Armstrong L. McGowan-Jordan J, Brierley K, Allanson JE. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnor- mal phenotype. Am J Med Genet A 2003;116:71-76.
- Correa-Cerro L, Garcia-Cruz D, Ruiz MX, Sanchez-Corona J. De novo duplication Xq22-q23 in a girl with short stature and gonadal dysgenesis. Ann Genet. 1999;42:41-44.
- Sanlaville D, Schluth-Bolard C, Turleau C. Distal Xq du- plication and functional Xq disomy. Orphanet J Rare Dis 2009; 20:4-5.
- Lüleci G, Başaran S, Bağcı G, Keser İ. Sitogenetik Uygu- lama Yöntemleri. Metaksan A.Ş. Ankara: 1990:1-18.
- Tihy F. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. Am J Med Genet 1999; 87:302–305.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Research Articles |
| Authors | |
| Publication Date | March 1, 2010 |
| Submission Date | March 2, 2015 |
| Published in Issue | Year 2010 Volume: 37 Issue: 1 |