Perinatology.  2019 Dec;30(4):254-259. 10.14734/PN.2019.30.4.254.

Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]

• Gang MH
• Lee YW
• Lim HH
• Chang MY

• KMID: 2468549
• DOI: http://doi.org/10.14734/PN.2019.30.4.254

Abstract

Trisomy 12p is a rare chromosomal anomaly. It causes dysmorphic features, multiple congenital anomalies, neonatal complications, and mental retardation. We present a case of complete and pure trisomy 12p syndrome resulting from malsegregation of a balanced translocation of maternal origin, with a comprehensive literature review.

Keyword

Chromosome 12; 12p; Chromosome duplication; Trisomy 12p

MeSH Terms

Chromosome Duplication
Chromosomes, Human, Pair 12
Intellectual Disability
Trisomy*

Figure

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  Fig. 1 Morphological features of the patient. Note a flattened face with a broad, flat nasal bridge, a depressed forehead, upward slanting palpebral fissures, low-set and poorly lobulated ears, a long philtrum, a short neck, and clenched hands with overlapping fingers.

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  Fig. 2 Chromosome analysis of the patient and his parents. (A) Fluorescence in situ hybridization of the patient using a chromosome 21-specific probe. Two chromosome 21 were stained with a chromosome-specific painting probe for chromosomes 21, a locus-specific identifier 21 probe localized within bands 21q22.13–q22.2 (spectrum orange, arrow). It means the patient is not Down syndrome. (B) Giemsa banding stain of the patient showing additional free chromosome 12p fission product. (C) Giemsa banding stain of the patient's mother showing the balanced translocation between chromosomes 12 and 22. (D) Giemsa banding stain of the patient's father showing normal karyotype.

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  Fig. 3 Radiologic findings of the patient. (A) Abdominal ultrasonography showing mild dilatation of right proximal intrahepatic bile ducts. (B) No gut excretion of technetium-99m diisopropyl iminodiacetic acid up to 24 hours revealed on hepatobiliary scintigraphy.

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