From: Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report
Ref | duplicated fragment | Sex | Age at examination | Delayed development | Mental retardation | Typical facea | Congenital heart defect | Typical limbsb | size of the duplication | other means of the analysis |
---|---|---|---|---|---|---|---|---|---|---|
Coco R, et al. [16] | Pter→q12~13 | F | 1 year | + |  | + |  |  |  |  |
Simpson J, et al. [17] | Pter→q12~13 | F | 8 months | + |  | + |  | + |  |  |
Laurent C, et al. [18] | Pter→q12~13 | F | 3 months | + |  | + |  |  |  |  |
Fryns JP, et al. [19] | Pter→q12~13 | F | 7 years | + | moderate | + |  | + |  |  |
Fried K, et al. [20] | Pter→q21 | F | 19 months | + | + | + |  | + |  |  |
Raoul O, et al. [21] | Pter→q22~23 | M | 3 years | + |  | + |  | + |  |  |
Turleau C, et al. [22] | Pter→q22~23 | M | 1.5 years | + |  | + |  |  |  |  |
Allderdice PW, et al. [23] | Pter→q22~23 | F | 4 years | + | + | + |  |  |  |  |
Muldal S, et al. [24] | Pter→q22~23 | F | 16 years | + | + | + |  | + |  |  |
Fawcett WA, et al. [25] | Pter→q22~23 | F | 6 months | + |  | + |  |  |  |  |
Yeatman GW, et al. [26] | Pter→q22~23 | F | 12 years | + |  | + |  |  |  |  |
Reiss JA, et al. [27] | Pter→q24 | M | 10 months | + |  | + | + | + |  |  |
Lopez Pajares I, et al. [28] | Pter→q24 | F | 2 months |  |  | + | + | + |  | Q-banding |
Short EM, et al. [29] | Pter→q24 | M | 3 days | + |  | + | + | + |  |  |
Monfort S, et al. [30] | centromere to 14q11.2 | M | 14 years | + | + | + |  |  | 5.38 Mb | MLPA/aCGH |
Smyk M, et al. [31] | 14q11.2 | M | 7 years |  | + | + |  |  | 445 kb | CGH |
Our patient | q11.2 → q21.3 | M (fetus) | 24 weeks |  |  | + | + |  | 29.6 Mb | SNP-array |
Wannenmacher B, et al. [5] | q11.2 → q22.3 | M | 33 years | + | + | + |  | + |  | STR/FISH |
Ito M, et al. [32] | q13 → q22 | M | 7 years | + |  | + |  |  |  |  |