Partial trisomy 3p and monosomy 5p diagnosed by spectral karyotyping (SKY).

A recent contribution by Puvabanditsin et al. in Genetic Counseling described a female with distal short arm of chromosome partial monosomy 5pl5.33 and partial trisomy of the distal short arm of chromosome 3p24.3 and reviewed the literature (8). To date, only two case reports have described a similar unbalanced translocation with trisomy 3p and monosomy 5p, except that Puvabanditsin reported this time (1, 2). We have just encountered another 4th case with partial trisomy 3p and partial monosomy 5p diagnosed by spectral karyotyping (SKY).The female was bom by Cesarean section because of intrauterine growth retardation. She was delivered at 36 weeks gestational age at a birth weight of 1980g. Her Apgar score was both 3 points at 1-minute and 6 points at 5-minutes. She was admitted neonatal intensive care units (NICU). Chromosomal analysis was performed at birth because of the patient's characteristic facial features with microcephaly, micrognathia, hypertelorism, epicanthal fold, high-arched palate of mouth. She also had both cat-like crying and a severe congenital heart disease with atrial septal defect, ventricular septal defect and patent ductus arteriosus. Since severe heart failure advanced, she respired artificial ventilation therapy on the 1st day of after the birth. Although the operation with ligation of patent ductus arteriosus was conducted on the 2nd day, also after that, pulmonary hypertension continued. Her chromosomal karyotype is 46,XX,der(5)t(3;5)(p23;P 13.3), and diagnosed as associated with 5p partial monosomy and 3P partial trisomy (Figs 1, 2). SKY analysis was performed in order to perform genetic counseling to parents (Fig. 3). Since heart failure and swallowing were difficult, oral nursing was impossible and was taken as tube feeding. The child discharged NICU with home oxygen therapy in four months of her age. However, after that, aspiration pneumonia was repeated and hospitalization management was required frequently. At 6 years of her age, she could turn over only one side and could not sit. There was no significant word at the age of seven. She died of heart failure at 7 years-old four months.To the best of our knowledge, our case is the 4th to describe a patient with partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 3. SKY is a technique for chromosome analysis based on the approach of the fluorescence in situ hybridization technique, using painting each of the 24 human chromosomes with different colors (4). In case with the structural abnormality of a chromosome of unknown origin is detected via G-banding, an evaluation of the SKY results is made based on the colors that are displayed, so it is easy for a physician to explain the results to the parents of a patient in genetic counseling (5).Puvabanditsin etal. reported monosomy 5p with partial trisomy 3p, the case had absence of major dysmorphic craniofacial features and catlike cry characteristic of the cri-du-chat syndrome (8). …