Patient | Chromosomal Region | Methodology | Molecular deletion (minimal) | Hand/Foot malformation | Anal Malformations | Low Set/Dysmorphic Ears | Growth Retardation | Hypotonia | MR/DD |
---|---|---|---|---|---|---|---|---|---|
Present Case | 16q11.2q12.1 | oligonucleotide aCGH | Chr16: 45,018,886 -- 50,571,154 | Low-set thumbs, partial 4,5 toe syndactyly | + | + | + | + | + |
1A | 16q11.1q12.1 | 550 band karyotype | ND | Proximally placed thumbs, short distal phalanges | - | + | - | - | + |
1B (sister of 1A) | 16q11.1q12.1 | 550 band karyotype | ND | Proximally placed thumbs, short distal phalanges | - | + | + | - | + |
2 | 16q11.2q21 | CGH/FISH | Chr16:49,728,524-62,004,665 (YAC 922f01-PAC LLNLP704M031126Q4) | Radial hypoplasia, preaxial polydactyly, malpositioned toes | + | + | - | NA | NA |
3A | 16q11.2q12.2 | oligonucleotide aCGH | chr16:45,058,042-52,009,874 | Malpositioned toes, syndactyly | - | + | - | + | + |
3B | 16q11.2q12.2 | oligonucleotide aCGH | chr16:45,058,042-50,485,941 | Malpositioned toes | Rectal prolapse | + | - | + | + |
4 | 16q11.1q13 | high resolution karyotype | ND | Malpositioned toes | - | + | + | + | + |
5,6 | 16q12.1q12.2 | 650 band karyotype/somatic cell hybrids | chr16:49,028,856 (D16S308) | Malpositioned toes, long fingers | - | + deafness | + | + | + |
7 | 16q12.1q12.2 | BAC aCGH/FISH | chr16:50,271,170-52,727,176 (BAC RP11-242n20-RP11-324d17) | Radial hypoplasia, syndactyly | - | NA | - | + | + |
8 | 16q12.1q12.2 | qPCR | Chr16:47,900,000-49,800,000 (approx.) | Long thumbs | + | + deafness | - | NA | + |
9A | 16q12.1q13 | 850 band karyotype | ND | Malpositioned toes, syndactyly, small hands and feet | - | + deafness | + | + | + |
9B twin of 9A | 16q12.1q13 | 850 band karyotype | ND | Malpositioned toes, syndactyly, small hands and feet | + | + | + | + | + |