Neonatal Med.  2022 May;29(2):91-95. 10.5385/nm.2022.29.2.91.

Developmental Delay and Rehabilitation in an Infant with Partial Trisomy 1q32.1 to 1q44: A Case Report

• Kim WK
• Lee NM
• Lim IS
• Chae SA
• Yun SW
• Yi DY
• Kim SY

• KMID: 2530612
• DOI: http://doi.org/10.5385/nm.2022.29.2.91

Abstract

Partial trisomy 1q is a rare chromosomal disorder characterized by ventriculomegaly with craniofacial, renal, cardiac, and finger and toe anomalies. Most reported cases of partial trisomy1q have involved stillborn or premature deaths due to cardiac or liver failure. This case report describes an 18-month-old patient with partial duplication of the 1q32-44 segments and consequent developmental delays who exhibited improvement in developmental status with rehabilitation. Prenatal ultrasonography and magnetic resonance imaging of the mother revealed ventriculomegaly and atrophic changes in the left cerebral hemisphere of the fetus. The infant was born with micrognathia, microphthalmia, macrocephaly, low-set ears, polydactyly, and long feet at 37+5 weeks of gestation. A chromosomal study revealed an abnormal male karyotype of 46,XY,rec(1)dup(1)(q32.1q44)inv(1)(p36.3q32.1)pat. In this rare case of a patient with partial trisomy, we observed improvement in developmental delays following treatment using appropriate rehabilitation techniques. Further research is required to help validate the findings of this case study and establish a standardized rehabilitation technique that can be subsequently applied to such cases.

Keyword

Trisomy; Chromosomes, human, pair 1; Development; Rehabilitation

Figure

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  Figure 1. Photograph of the face showing (A) low-set ears. (B) Polydactyly and long fingers. (C) Long toes.

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  Figure 2. (A, B) Magnetic resonance imaging shows diffuse subdural fluid collection in the left cerebral and cerebellar convexity, a dilated left temporal horn, and choroid plexus cysts in the lateral ventricle (arrows).

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  Figure 3. A chromosomal study of the patient and his family. (A) The paternal chromosomal study showed a 46,XY,inv(1)(p36.3q32.1) karyotype (arrow). (B) The maternal chromosomal study showed a 46,XX karyotype. (C) The chromosomal study of the patient showed a 46,XY,rec(1)dup(1) (q32.1q44)inv(1)(p36.3q32.1)pat karyotype (arrow).

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