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

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

*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	−

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].

ISSN: 1755-8166