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Medicina, Vol. 46 No. 2, 2010.

Kratko priopćenje

Ring chromosome 18 syndrome

Nina Pereza ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Alena Buretić-Tomljanović ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Jadranka Vraneković ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Saša Ostojić ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Miljenko Kapović ; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska

Puni tekst: hrvatski pdf 241 Kb

str. 208-213

preuzimanja: 2.602

citiraj

Sažetak

Aim: Ring chromosomes are rare structural chromosomal aberrations which form after the breakage in both terminal regions of the affected chromosome with fusion of the short and long arm into a ring formation. The incidence of ring chromosome syndromes is
estimated to be about 1:50.000 live born children. Here we present the first case of a girl with ring chromosome 18 syndrome identifed at the Department of biology and medical genetics (School of medicine, University of Rijeka).
Case report: The patient is a twelve-year old girl with psychomotor retardation, microcephaly, short stature, dysmorphic facies (hypertelorism, midface hypoplasia, downturned corners of mouth, cleft palate, prognathia, low-set ears), bilateral stenosis of the external auditory canal with conductive deafness and brachydactyly. Cytogenetic analysis determined a mosaic karyotype: 46,XX,r(18)(p11.3;q23)[97]/45,XX,-18[3] de novo. Our patient has the characteristic features of 18p and 18q deletion syndromes. We present the clinical features of the patient and compare them to the
classical features of 18p and 18q deletion syndromes.
Discussion and conclusion: Although ring chromosome 18 syndrome is a rare genetic disorder it is necessary to identify the child with multiple congenital anomalies by primary care physicians and refer the child to the proper medical instituti on for genetic testing and genetic counseling.

Ključne riječi

dysmorphology; deafness; genetics; short stature

Hrčak ID:

53228

URI

https://hrcak.srce.hr/53228

Datum izdavanja:

7.6.2010.

Podaci na drugim jezicima: hrvatski

Posjeta: 5.272 *