Skip to main content

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].