Balkan Journal of Medical Genetics

A CASE WITH EMANUEL SYNDROME: EXTRA DERIVATIVE 22 CHROMOSOME INHERITED FROM THE MOTHER
İkbal Atli E*, Gürkan H, Vatansever Ü, Ulusal S, Tozkir H
*Corresponding Author: Emine İkbal Atli, Ph.D., Department of Medical Genetics, Faculty of Medicine, Trakya University, Campus Of Balkan, D100 Street, Edirne 22030, Turkey. Tel: +90-554-253-4030. Fax: +90- 284-223-4201. E-mail: emine.ikbal@gmail.com
page: 77

CASE REPORT

We report a 3-year-old boy with the t(11;22) (q23;q11) chromosome, transmitted in an unbalanced fashion from his mother. It was her first pregnancy; the patient’s mother and grandmother have no history of the disease (Figure 1). The prenatal period of the infant was uneventful. The infant was delivered at full-term by vaginal delivery. His birth weight was 3.25 kg, length 52 cm. At birth, he was found to have a cleft palate, micrognathia, undescended testis, inguinal hernia, and surgery was performed to correct these anomalies (Figure 2). He is now 3 years old and echocardiography revealed a secundum atrial septal defect of about 10 mm. He also has central nervous system (CNS) and skeletal anomalies, mental retardation, hypotonia, white matter abnormalities, cerebral atrophy, scoliosis, kyphosis and glaucoma. On hearing assessment, he has bilateral hearing loss. He has gallstones and feeding problems. He was admitted to our hospital repeatedly due to respiratory infections and recurrent ear infections. His head circumference is 48 cm and he has a short neck with low posterior hairline. Magnetic resonance imaging (MRI) showed lateral ventricles are enlarged to approximately 22mm (Figure 3). He has several developmental delays; he is not independently ambulatory and language is significantly impaired. Using his peripheral blood, karyotyping was performed to define his multiple congenital anomalies, revealing the chromosomal abnormality 47,XY,+der(22)t(11;22) (q23.3; q11.2) (Figure 4). To ascertain the origin and trait of this supernumerary marker chromosome [der(22) t(11; 22)(q23.3;q11.2)] karyotyping of his parents was performed. The mother was found to be a balanced carrier: 46,XX, t(11;22)(q23.3;q11.2) (Figure 5). We used fluorescent in situ hybridization (FISH) probes for the 22q11.2 and 22q13.3 deletions and identified the supernumerary chromosome der(22)t(11;22) (Figure 6)/maternal t(11;22) (q23.3;q11.2) (Figure 7). We used Aquarius ® Microdeletion Syndrome probes, DiGeorge/ VCFS TUPLE 1 and 22q13.3 Deletion Syndrome Probe Combination (Cytocell Ltd., Cambridge, UK).

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