TWO PATIENTS WITH X CHROMOSOME DUPLICATION: dupXp AND dupXq
Ozer O1, Yilmaz Z1, Simsek E2, Derbent M3, Guner S3, Sahin FI1*
*Corresponding Author: Feride I. Sahin, Department of Medical Genetics, Faculty of Medicine, Baskent University, Kubilay sok. No: 36, 06570 Maltepe, Ankara, Turkey; Tel.: +90-312-232-44- 00/302; Fax: +90-312-231-91-34; E-mail: feridesahin@hotmail.com
page: 59

CASE REPORT

Patient 1 is an 18-year-old female who was re­ferred to the Obstetrics and Gynecology Department at Baskent University, Ankara, Turkey, because of a menstrual irregularity. She reached menarche at 12 years of age. She had regular menstrual periods while on low-dose estrogen-progesterone therapy. Her height was 182 cm and weight was 69 kg. She had a low hairline, cubitus valgus and dyslexia. The follicle stimulating hormone level was 16 mIU/ ml (normal range: 12-14 mIU/ml) and magnetic reso­nance imaging (MRI) showed normal uterus and ovaries (Table 1). Chromosome analysis in our cy-

togenetic laboratory of a standard peripheral blood culture with chromosome harvesting revealed a karyotype of 46,X,dup(X)(p11.3p21) (Figure 1a). Since her mother had experienced menopause at the age of 34, she was also karyotyped and also showed 46,X,dup(X) (p11.3p21). The family was informed of the condition during genetic counseling sessions. The patient is being treated for menstrual prob­lems.

Patient 2 is a 9-month-old girl who was referred to our hospital for multiple congenital anomalies and intractable epilepsy. She was the first child of non consanguineous parents. She was born at term following a microinjection pregnancy achieved by intracytoplasmic sperm injection because of oli­gospermia, her birth weight being 1740 g. Length and head circumference at birth were not recorded. The pregnancy was uncomplicated and there was no history of maternal exposure to teratogen. Prenatal ultrasonographic examinations and maternal serum screening test results were normal. The family his­tory was unremarkable.

At 9 months her weight was 5.2 kg (<3rd cen-tile for age), length 58.2 cm (<3 centile for age), and head circumference 39.2 cm (<3rd centile for age). She had mental and motor retardation. Head control was gained at 4 months. She was unable to sit unassisted and had brachycephaly. Her ear lob­ules were hypoplastic, the right helix being straight and prominent (Figure 2a). Simian line and camp-todactyly of the left hand (Figure 2b), flexion con­tractures of the thumbs, and overlapping of the toes were noted on the extremities. Breast feeding could not be provided. Feeding problems and vomiting, recurrent urinary tract infections, and growth fail­ure were among the problems encountered during follow-up examinations (Table 1).

Complete blood count, routine biochemical testing of liver and kidney functions, serum levels of electrolytes, creatine phosphokinase, ammonia, lactate and pyruvate, amino acid analysis of the urine and blood, and screening for prenatal infection gave normal results. Chromosome analysis revealed a karyotype of 46,X,dupX(q13q25) (Figure 1b). The parents had normal karyotypes. Cranial MRI, abdominal ultrasonographic examination and echocardiography findings were normal. Ophthalmologic examination was unremarkable. The patient remained under clinical monitoring about her neurological problems. The parents were informed at the clinical follow-up, and probable future problems were explained.




Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006