Interstitial deletion of a proximal 3p: A clinically recognisable syndrome

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

“…Moreover, the ROBO1 gene has been previously associated with learning disabilities, especially in dyslexia. Interestingly, notable delay in language acquisition is present in our patient and in most of the reported cases with deletions of the 3p12 band [Lalli et al, 2007]. In relation to height, there are no genes described associated with this clinical feature in the deleted region.…”

“…Growth retardation, psychomotor delay (with significant speech defect) and dysmorphic facial features are the most generally observed congenital abnormalities. However, these patients may also present heart and kidney defects, cleft lip/palate and brain anomalies [Kogame and Kudo, 1979;Sichong et al, 1981;Neri et al, 1984;Hertz et al, 1988;Naritomi et al, 1988;Crispino et al, 1995;Wie czorek et al, 1997;Pfeiffer et al, 1998;Petek et al, 2003;Lalli et al, 2007;Schwarzbraun et al, 2007; https://decipher.sanger.ac.uk/application/]. Our patient and the previously reported cases share growth retardation, neurodevelopmental delay (with speech delay), dysmorphic features and brain anomalies ( table 1 ).…”

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

“…There was one patient in DECIPHER (patient 00004666) with joint laxity, mental retardation, speech delay, and a long/thin face, who had a partially overlapping deletion from 49,290,812–54,276,939 Mbp. However, most patients described in the literature with interstitial 3p deletions are more proximal and involve band 3p12 [7,11,15], which is not included in our patient’s deletion. These patients have variable phenotypic findings, but are thought to commonly share psychomotor delay, cardiovascular anomalies, early growth retardation, and dysmorphic facial features such as dysplastic and low-set ears.…”

Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

“…Special attention is deserved for ROBO2 and FOXP1 . ROBO2 plays an important role in axon guidance across the midline during the development of the central nervous system, suggesting a possible role of this gene in the pathogenesis of moderate mental retardation [Lalli et al, 2007;Tutulan-Cunita et al, 2012]. Defects in FOXP1 have been reported in patients with autism spectrum disorders and non-syndromic intellectual disability [Pariani et al, 2009;Bacon et al, 2012;Palumbo et al, 2013].…”

“…However, a clinically recognizable syndrome, characterized by dysmorphic facial features (broad forehead, epicanthic folds, arched or cleft-palate/lip, short/ broad nose, low-set malformed ears), early growth retardation, transverse palmar crease, hearing impairment, cardiac anomalies, and genital anomalies, is emerging [Wyandt et al, 1980;Neri et al,1984;Pfeiffer et al, 1998;Petek et al, 2003;Lalli et al, 2007]. In the published cases, the deleted region spans from 3p11 to 3p22.1 [Wyandt et al, 1980;Neri et al,1984;Pfeiffer et al, 1998;Petek et al, 2003;Lalli et al, 2007;Pariani et al, 2009;Tutulan-Cunita et al, 2012;Palumbo et al, 2013]. The clinical phenotype of our patient fits well with the clinical features previously described in other patients with proximal 3p deletions ( table 1 ).…”