Trisomy 14 mosaicism in a 5‐year‐old boy

Abstract

We report on a 5-year-old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes. He had mosaicism of 46,XY/47,XY, + 14 in a ratio of 3:1. Comparisons are made with the other reports of trisomy 14 mosaicism and relationship to incontinentia pigmenti.

A Case of Incontinentia Pigmenti Associated with Multiorgan Abnormalities

“…Abnormalities of the musculoskeletal system have been observed, including hemivertebra, hemiatrophy, syndactyly, congenital dislocation of the hip, club foot, dwarfism, kyphoscoliosis, unilateral acheiria, and supernumerary ribs 3 . Among the cardiovascular anomalies observed in patients with IP are atrial septal defects, patent ductus arteriosus, acyanotic tetralogy of Fallot (TOF), ventricular endomyocardial fibrosis, tricuspid insufficiency, and primary pulmonary hypertension 3,4,11,13 . Cleft lip and palate have been rarely reported 14 .…”

“…She also had a large perimembranous VSD, left hemiatrophy, hemangiomas, an abnormal labial frenum, and spastic cerebral palsy manifested as left hemiplegia and developmental delay. To our knowledge, although VSD is a relatively common cardiac anomaly estimated to affect up to 1% of babies, there has been only one reported case of an IP patient with TOF, one component of which is a VSD 13 . An abnormal labial frenum has also never been reported in an IP patient, and a cutaneous vascular anomaly has been described in only one case of IP, in which a port-wine stain was present.…”

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

“…The G-banding analysis revealed mosaic trisomy 14 ( Fig. 3): 47, XX, +14 [7]/46, XX [23]. Thus, the percent aneuploidy on karyotyping was 23.3%.…”

“…4) Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. [5][6][7][8][9][10] The clinical features include retarded growth…”

Unusual Neonatal Presentation of Incontinentia Pigmenti with Persistent Pulmonary Hypertension of the Newborn: A Case Report

“…Other systems that may be involved include the central nervous system (mental deficiency, microcephaly, seizures); the eyes (ischemia of peripheral retinal field, retinal dysplasia, retinal detachment, pigment retinopathy, retrolental dysplasia); the hair (alopecia); the musculoskeletal system (hemivertebrae, kyphoscoliosis, syndactyly, hemiatrophy) and the teeth (hypodontia, microdontia and dysplasia). [2][3][4] A few patients with IP have presented with cardiovascular anomalies including left ventricular endomyocardial fibrosis, 5 acyanotic tetralogy of Fallot, 6 triscupid insufficiency, anomalous connection of the right pulmonary vein into the superior vena cava, and infantile pulmonary hypertension (presentation at 2 and 6 months of age). 7,8 We report a neonate with IP who presented at birth with persistent pulmonary hypertension of the newborn (PPHN).…”