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Table 3 Present case and four patients listed at Decipher with similar deletions, ranging from 2q22.1 to 2q22.3, are shown

From: Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

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
  1. LEGEND: important data from five individuals with overlapping intervals are shown. The RefSeq genes and the phenotype columns list only the genes and the clinical findings shared with our patient. Full information of gene contents and phenotype from the Decipher patients is seen at Decipher website [17].