Balkan Journal of Medical Genetics

RING AUTOSOMES: SOME UNEXPECTED FINDINGS
Caba L1,*, Rusu C1,2, Plăiaşu V3, Gug G4,5, Grămescu M1, Bujoran C2, Ochiană D3, Voloşciuc M2, Popescu R1, Braha E1,2, Pânzaru M1,2, Butnariu L1,2, Sireteanu A1, Covic M1, Gorduza EV1
*Corresponding Author: Dr. Lavinia Caba, “Grigore T. Popa” University of Medicine and Pharmacy Iasi, Department of Medical Genetics, 16 Universitatii str., Iasi, 700115, Romania; Tel.: +40724962671; Email: lavinia_zanet@yahoo.com
page: 35

RESULTS

38 cm and head circumference (OFC) 28 cm. Postnatal development showed severe developmental delay, hyperactivity, aggression, mewing cry in the neonatal period. Clinical examination at 3 years of age revealed short stature [–2.8 standard deviation (SD), microcephaly (OFC –4.3 SD), dysmorphic face (triangular face, mild facial asymmetry, hypertelorism, abnormal, low set, asymmetric ears) (Figure 1). She presented severe mental retardation (IQ 40) and challenging behavior. Echocardiography showed: subaortic ventricular septal defect (VSD), tri-cuspid insufficiency, foramen ovale apertum without pulmonary hypertension. Renal ultrasound was normal. The clinical diagnostic supposition was Cri du Chat syndrome. Blood karyotype: mos 46,XX,r(5) (p14q35)[80]/45,XX,-5[8]/47,XX,r(5)(p14q35),r(5) (p14q35)[3] (Figure 2). The karyotype of both parents was normal. Case 2. A boy, born at full-term, weight 1600 g, length 42 cm and OFC 28 cm (severe intrauterine growth retardation). The patient was the first child of a young, apparently healthy and unrelated couple. Clinical exam at age of 2 days showed: growth retardation, microcephaly with doli-cocephaly, hypertelorism, epicanthic folds, small nose with anteverted nostrils, broad and prominent nasal bridge, ogival palatine vault, long philtrum, micrognathia, big, low set ears with posterior rotation, short neck, micropenis, anteriorly displaced anus and deep sacral dimple (Figure 3). Hematological investigations, liver and renal function tests were normal. Cardiac ultrasonography attested patent ductus arteriosus (PDA), foramen ovale apertum and diastolic dysfunction of the left ventricle. The postnatal evolution was marked by severe growth retardation and the child died at the age of 2 months. Blood karyotype: mos 46,XY,r(13)(p11.2q34) [51]/45,XY,-13[12]/46,XY,dic r(13)(p11.2q34)[1] (Figure 4). The karyotype of both parents was normal. Case 3. A girl born at full term weighing 3400 g and length of 54 cm. She is the second child of a couple apparently healthy and unrelated (mother aged 32 years and father aged 42 years at time of conception). Clinical examination at the age of 13 years and 7 months revealed: weight = 43.5kg, height = 152 cm, OFC = 51.5 cm, dys-morphic features (hypertelorism, facial scar secondary to surgical procedures to correct cleft lip), mental retardation (she doesn’t attend a mainstream school). From pathological history we mention: left cleft lip surgically corrected, sensorineural hearing loss, bilateral stenosis of external auditory canals, clubfoot. Cranial magnetic resonance imaging: acquired lesion of corpus callosum. Blood karyotype: mos 46,XX,r(18)(p11.32q23) [43]/47,XX,r(18) (p11.32q23),+mar[7] (figure 5). Blood karyotype of both parents was normal. For supplementary investigation of the ring chromosome 18, FISH probes for telomeres of chromosome 18 (Aquarius®; Cytocell Technologies Ltd.) were applied. The results of the investigation showed the presence of telomeres for the normal chromosome 18 only (green signal) and absence of the telomeres for the ring chromosome 18 (Figure 6). Case 4. A girl, born at full-term, weight 3000 g, length 50 cm and head circumference 34 cm. Her parents were young, apparently healthy and unrelated. Clinical examination at the age of 2 showed: weight = 8000 g, height = 84 cm, OFC = 46 cm, dysmorphic features (hypertelorism, narrow ear canals, micrognathia), club foot varus, impaired hearing, developmental delay. Abdominal ultrasound revealed horseshoe kidneys. Blood karyotype 46,XX,r(18) (p11.32q21.3) (Figure 7). Blood karyotype of both parents was normal. To investigate the breakpoints on ring chromosome 18, we applied FISH probes for both subtelomeres 18p (D18S552 – red) and 18q (D18S1390 – green) of chromosome 18 (Aquarius®; Cytocell Technologies Ltd.). The results of the investigation showed the presence of subtelo-meric FISH signals only on the normal chromosome 18 [red signal for 18 short arm (p) and green signal for 18 long arm (q)] and the absence of fluorescent signals on ring chromosome 18 (Figure 8). We also used FISH analysis with Aquarius® Whole Chromosome Painting Probes (Cytocell Technologies Ltd.) marked with a green fluoro-phore for chromosome 18; this attested the origin of the ring chromosome (Figure 9). Case 5. A boy, born at full-term, weight 3500 g, length 52 cm and OFC 35 cm. His parents were young and non consanguineous. Clinical examination at age of 2 months showed: weight = 4940 g, height = 53 cm, dysmorphic fea-tures (short neck, narrow bitemporal diameter, preauricular pits, large ears, bulbous nose, anteverted nostrils, long philtrum, macrostomia, thin upper lip, short lingual fren-ula), hypospadias. Echocardiography discovered VSD and PDA. Blood karyotype 46,XY,r(18)(p11.32q23) (Figure 10). Blood karyotype of both parents was normal. Case 6. A boy, born prematurely with a weight of 2000 g, length 48 cm, and an Apgar score of 7. Obstetrical history indicated an imminent abortion two months after conception. Clinical examination at 2 months old revealed: microcephaly, dysmorphic craniofacial features with high forehead, down-slanted palpebral fissure, low set ears, prominent antihelix, flattened helix, large concha, micro-gnathia, microstoma, cleft palate. The patient also presented muscular hypertonia, systolic heart murmur, umbilical and inguinal bilateral hernia, undescended right testis, right simian crease, left Sydney crease. The patient’s evolution did not improve and he died at 3 months. The postmortem examination revealed a large septal atrial defect (for this old case, the echocardiography was unavailable). Karyotype 46,XY,r(21) (Figure 11). Blood karyotype of both parents was normal.

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