Distal trisomy 14 (q24 → qter) and aorto-pulmonary window: a case report and review of the literature

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

“…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 ].…”

Familial recurrence of anomalous origin of right pulmonary artery from the aorta

“…Aorto‐pulmonary window is also a rare conotruncal CHD. Most of the patients with aorto‐pulmonary window are nonsyndromic and sporadic, but patients with chromosomal imbalances have been described [Izumoto et al, 1999; Perrin et al, 2002].…”