Patient | Cytogenetic deletion | sex | Interval start-end (bp, hg19) | Interval (Mb) | RefSeq Gene | Phenotype |
---|---|---|---|---|---|---|
This report | 2q22.1q22.3 | Male | 138,750,000–144,750,000 | 6 | HNMT, SPOPL, NXPH2, LOC647012, LRP1B, KYNU, ARHGAP15, GTDC1 | Omphalocele, cryptorchidism, hypospadia. ID/MR, deep-set eyes, strabismus, thick eyebrow, protruding tongue, small teeth, pointed chin, bulbous nose, wide spaced nipples, hypoplastic nipples, bilateral clinodactyly of fifth finger, non-specific dermatoglyphic patterns, scoliosis, global developmental delay and behavioral disorder. Autism spectrum disorder. |
1607 | 2q22.1q22.3 | Female | 139,813,180–145,063,389 | 5,25 | HNMT, SPOPL, NXPH2, LRP1B, KYNU, ARHGAP15, GTDC1 | ID/MR, strabismus, bulbous nasal tip, hypoplastic/inverted/absent nipples. |
2566 | 2q22.2q22.3 | Female | 143,635,233–147,935,002 | 4,30 | LRP1B, KYNU, ARHGAP15, GTDC1 | ID/MR, strabismus, thick eyebrows. |
250662 | 2q22.1q22.3 | Male | 141,232,786–147,935,002 | 6,70 | HNMT, SPOPL, NXPH2, LRP1B, KYNU, ARHGAP15, GTDC1 | − |
251811 | 2q22.2q22.3 | Female | 143,715,235–146,369,069 | 2,65 | LRP1B, KYNU, ARHGAP15, GTDC1 | − |