Pure 9p duplication syndrome with aplasia of the middle phalanges of the fifth fingers

• Published in: European journal of medical genetics Vol. 63; no. 10; p. 104005
• Main Authors: Sato, Anna, Suzuki, Toshifumi, Ikeno, Mitsuru, Takeda, Jun, Yamamoto, Yuka, Shinohara, Mitsuko, Makino, Shintaro, Takeda, Satoru, Shimizu, Toshiaki, Itakura, Atsuo
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01.10.2020
• Subjects: 9p duplication syndrome; Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - genetics; Aplasia/hypoplasia of distal phalanges; Aplasia/hypoplastic middle phalanges; Chromosomes, Human, Pair 9 - genetics; Coffin–siris syndrome; Face - abnormalities; Face - diagnostic imaging; Female; Finger Phalanges - abnormalities; Fingers - abnormalities; Hand Deformities, Congenital - diagnostic imaging; Hand Deformities, Congenital - genetics; Humans; Infant, Newborn; Intellectual Disability - diagnostic imaging; Intellectual Disability - genetics; Magnetic Resonance Imaging; Male; Micrognathism - diagnostic imaging; Micrognathism - genetics; Neck - abnormalities; Neck - diagnostic imaging; Phenotype; Pregnancy; Siblings; Toes - abnormalities; Transcription Factors - genetics; Trisomy - genetics; 9p duplication syndrome; Aplasia/hypoplasia of distal phalanges; Phenotype; Aplasia/hypoplastic middle phalanges; Coffin–siris syndrome
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2020.104005

9p duplication syndrome is a common congenital anomaly syndrome with specific facial features, mental and developmental retardations, and characteristic fingers. Pure 9p duplication without other chromosomal structural variations is very rare. It has recently been reported that cases with partial 9p duplication including SMARCA2 have phenotypes overlapping with Coffin–Siris syndrome (CSS). Herein, we present a family with pure 9p duplication syndrome in which phenotypes partially characteristic of CSS were identified. In one of two siblings, X-ray examination revealed hypoplasia of the distal phalanges of the fifth fingers, aplasia of the middle phalanges of the fifth fingers, and aplasia of the distal phalanges of the second to fifth toes. In pure 9p duplication together with our one affected case, 9 out of 14 cases (64.3%), excluding cases whose clinical data were unavailable, presented the absence or hypoplasia of the middle phalanges of fingers or toes. Interestingly, there are no reports on CSS with aplasia or hypoplasia of the middle phalanx. Therefore, this family might suggest that the aplasia or hypoplasia of the middle phalanges of the fifth fingers or toes is a distinct finding that can distinguish between pure 9p duplication and CSS.