Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting

Abstract

The combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11-p14.1).

A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

“…A disruption of this function may explain our clinical finding of arthrogryposis and hypertonia. Though we can only speculate, the limitations of movement in the finger joints of a case with a deletion of 3p11p14.1 described by Crispino et al [1] may also represent arthrogryposis associated with a deletion in FOXP1. FOXP1 has also been suggested as a potential tumor suppressor gene and likely plays a role in cardiac development.…”

“…Three other cases have been described which may include a deletion of FOXP1 [1,5,15]. Sichong et al [15] described a case of a girl with a de novo deletion of the proximal segment of short arm of chromosome 3 (46,XX, del(3)(p11p14.2)).…”

“…The child had growth delay, psychomotor delay, dysmorphic facies and hearing impairment. Crispino et al [1] described an infant with a reciprocal translocation between chromosome 3 and 20 with an interstitial deletion of 3p 46XX,t(3;20)(p14.2;p12.2)del(3)(p11p14.1). This infant was small for gestational age (<3rd percentile), with dysmorphic facies, ulnar deviation of the wrists, transverse palmar creases and limitations of movement in the finger joints.…”

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

“…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 new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

“…Interestingly, the exact equivalent of the mouse Mitf mutation, a deletion of one of a run of four arginine residues, that led to the identification of MITF as causative gene for WS2A in humans was found in a family with a phenotype more resembling Tietz syndrome than classic Waardenburg syndrome [Tassabehji et al, 1995]. Only a small number of patients with a deletion in this genomic region without additional cytogenetic aberrations has been reported so far [Sichong et al, 1981;Neri et al, 1984;Hertz et al, 1988;Naritomi et al, 1988;Crispino et al, 1995;Wieczorek et al, 1997;Pfeiffer et al, 1998;Petek et al, 2003]. A refined breakpoint mapping, using molecular and molecular-cytogenetic techniques, was performed in one of these cases with a deletion proximal to the MITF gene [Petek et al, 2003].…”