Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
The patient was a 2-month-old girl who was admitted due to persistent diarrhea for 3 days. She was born to a 31-yr-old father and a 30-yr-old mother via vaginal delivery at 38 gestational weeks and 3 days. During pregnancy, no specific problems were identified. At birth, her weight was 2.6 kg and no specific findings were detected. She was her parent's first child, and her mother's gestational history was normal (G1-P1-A0). At the time of admission, her weight was 3.3 kg (<3rd percentile), her height 48 cm (<3rd percentile), and her head circumference 34.5 cm (<3rd percentile). The only facial abnormalities observed were a relatively short palpebral fissure and low-set ears. Her fingers and toes were long and thin, but these findings were not notable. A brain magnetic resonance imaging (MRI) revealed no abnormalities. Chromosomal analysis revealed a 47,XX,+mar[44]/46, XX[6] karyotype (GTG banding, 550 bands) (). In order to identify the marker chromosome, a family study was performed, and this revealed the same chromosomal complement t(4;14) (p15.31;q12) in her mother (). An additional array analysis using Affymetrix Cytogenetics 2.7M array (Affymetrix, Santa Clara, CA, USA), detected an abnormal approximately 19 megabase (Mb) addition from 4pter to p15.31 (19,350,350 bp point) and an approximately 31 Mb addition from 14pter to q12 (31,088, 843 bp point) (). To validate these results, we performed FISH using a probe for 4p16.3 (Abbott Laboratories, Abbott Park, IL, USA), which revealed an additional 4p signal on the marker chromosome ().