Terminal 14q Deletion and Duplication with Gastrointestinal and Pulmonary Disease

Abstract

Terminal deletions of 14q are rare but have typical clinical findings whereas distal duplications of 14q are less well characterized. The combination of terminal deletion and distal duplication of 14q has only been reported once before. Neither terminal deletions nor duplications are consistently reported to have gastrointestinal or pulmonary manifestations. We report a terminal deletion and a distal inverted duplication of 14q in a patient with multiple anomalies; duodenal malrotation, feeding intolerance, cholestasis, tracheo-laryngo-pharyngomalacia and small bilateral congenital cystic adenomatoid malformations with severe obstructive sleep apnea. This is the first report of gastrointestinal and pulmonary features in a patient with both terminal 14q deletion and distal 14q duplication.

A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review

“…Distal trisomy 14 is rarer than proximal trisomy 14, and full trisomy 14 most often causes stillbirth. Several cases involve DECIPHER’s genome database, with a brief phenotypic description ( ; accessed on 2 April 2021), and approximately 20 cases of pure 14q duplication are reported in the literature [ 14 , 28 , 31 , 34 , 39 , 40 , 42 , 44 , 45 , 47 , 48 , 49 ]. Despite the rarity of terminal 14q32 duplication, a distinct phenotype characterized by low birth weight, GR, DD/ID, hypotonia, and facial dysmorphisms has emerged.…”

“…Despite the rarity of terminal 14q32 duplication, a distinct phenotype characterized by low birth weight, GR, DD/ID, hypotonia, and facial dysmorphisms has emerged. A systematic literature review of clinical features and frequencies in 45 reported cases with 14q duplication was conducted [ 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ] ( Supplementary Table S1 ). The unique phenotype was characterized by DD/ID (98%), low birth weight (60%), GR (36%) (blue bars in Figure 4 ), and facial dysmorphisms, including downslanting palpebral fissure, hyperteolorism, broad and/or flat nasal bridge, micrognathia, low-set ear, and sparse eyebrows and eyelashes (green bars in Figure 4 ).…”

“…On the other hand, duplication of 14q occurs as a result of various chromosomal structural aberrations, such as translocation, tandem duplication, inversion, or insertion [ 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ]. In most reported cases (69%), the abnormal chromosome segment resulted from a carrier parent.…”

“… Literature review of the clinical features and frequencies of 14q duplication in 45 reported cases attributed to translocation, tandem duplication, inversion, or insertion [ 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ]. Blue bar, detailed phenotypes of growth and development; green bar, detailed phenotypes of facial dysmorphisms; orange bar, detailed phenotypes of other organ system anomalies; grey bar, detailed phenotypes of other problems; DD, developmental delay; ID, intellectual disability.…”

“…To date, the various segments of abnormal rearrangements in 14q have been reported [ 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 ], and the terminal 14q32 duplication has been reported often in association with other cytogenetic abnormalities [ 7 , 8 , 11 , 43 , 47 ]. The genotype/phenotype correlations remain unclear, despite success in previous studies [ 39 , 42 , 43 , 47 , 49 ].…”