Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
The patient was a 9-yr-old girl who was admitted for growth retardation. She was born at 39 gestational weeks and 5 days at a local hospital with no specific problems identified during the pregnancy. At birth, her body weight was 2.6 kg, but other detailed birth information could not be acquired. At age 6, she visited our hospital for growth retardation. Her weight was 16.5 kg (3rd-10th percentile) and her height was 95 cm (<3rd percentile). At that time, her parents told that she had Down syndrome based on a previous genetic study. When the patient was re-admitted to our hospital at 9 yr of age, she had a body weight of 20.8 kg (3rd-10th percentile), a height of 101.7 cm (<3rd percentile), and a head circumference of 50.2 cm (<3rd percentile). She also presented with developmental delays that included a delayed first step (at age 5 yr), mental retardation, and behavioral problems, such as skin biting and overeating. She had a round face, asymmetric eyes (smaller left eye), small ears, and a short neck. The 4th toes on both sides were short, and both big toes were relatively thick (). No other visible abnormalities were detected. A chromosomal study was performed to reevaluate the diagnosis of Down syndrome. In the chromosome study, 47,XX,+mar was detected in all metaphase cells from the patient, and from a subsequent family study (GTG banding, 550 bands), her mother was identified as a balanced translocation carrier with t(4;14)(p15.3;q12) (). Affymetrix cytogenetic array analysis detected an approximately 19 Mb addition from 4pter to p15.31 (19,351,869 bp point) and an approximately 31 Mb addition from 14pter to q12 (31,098,692 bp point) in the patient (). FISH analysis, using a probe for 4p16.3, revealed an additional 4p signal on the marker chromosome (). The patient was started on hormonal therapy, and after 4 months of therapy, her weight was recorded as 22.3 kg (3rd-10th percentile) and her height was 105.4 cm (<3rd percentile).