Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

Abstract

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases.

Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p

“…Varying degrees of cognitive impairment appear to be a common feature in addition to ocular defects, ear malformations, and other dysmorphic features, such as a broad nose tip, micrognathia, open mouth, short neck, clinodactyly, and other musculoskeletal abnormalities. The most severe phenotype reported, prior to our cases, was by Stockton et al with a postnatal karyotype revealing 46,XX,del(1)(p21p22.3). Clinical features included hypoplastic left heart syndrome, cleft lip and palate, absent thumb, and vertebral anomalies.…”

“…The majority of rearrangements of chromosome 1 involve the long arm. Terminal deletions of the short arm are more common though a few cases of interstitial deletions have been reported in the literature . Most of the published reports were identified in older children or adults in the setting of developmental delay and minor structural anomalies .…”

“…Terminal deletions of the short arm are more common though a few cases of interstitial deletions have been reported in the literature. [2][3][4][5] Most of the published reports were identified in older children or adults in the setting of developmental delay and minor structural anomalies. 2,3,[6][7][8][9][10] In this paper, we present monozygotic twins with a large interstitial deletion of chromosome 1p with more severe phenotypic features than previously described.…”

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch

“…There have been five case reports of 1p deletions similar to our case 4, 5, 6, 7, 8. Prominent features include short stature, dysmorphic appearance, and neurodevelopmental delay (Table 1).…”

“…There is very little published literature about disease association with interstitial deletions of chromosome 1 between 1p12 and 1p21. There have been five case reports of 1p deletions similar to our case [4][5][6][7][8]. Prominent features include short stature, dysmorphic appearance, and neurodevelopmental delay (Table 1).…”