Paula and Bobby
Parents of Lillie
Chromosome 2q31 - Microdeletion
What is Chromosome 2q31 - Microdeletion?
Chromosome 2q31 - Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Del Campo et al., (1999) reported two infants with limb and genital abnormalities with a heterozygous deletion that eliminates at least HOXD3-HOXD13. Both had severe growth retardation and developmental delay. There was a single digit and forearm bone and the tibae and fibulae were replaced by a single poorly defined curved bone. The femurs and humeri were thin and poorly formed. One patient had a small penis with cryptorchidism and the other patient had severe renal hypoplasia with multiple cysts, an ASD, arrhinencephaly, ectopic periventricular grey matter, cavum septum pellucidum, left optic nerve hypoplasia and micropthalmia, corneal clouding, cleft palate and low-set ears. This patient had penoscrotal transposition with micropenis.
The patient reported by Mencarelli et al., (2007) had aggressive behaviour and self harmed. A patient with a similar breakpoint to this latter case was reported by Prontera et al., (2009). The deletion was of 2q31q32. Both patients were preterm, had severe retardation, behaviour problems, muscular build, macrocephaly, thick coarsehair, prominent supraorbital ridges, thick eyebrows, bifiduvula, bifid nasal tip, small jaw, posteriorly rotated ears, short neck, scoliosis, inguinal hernia, tapering fingers, genu valgum and sandal gaps.
Deletions of 2q24-q31 can also cause the appearance of split foot, associated with brachysyndactyly of the toes and camptodactyly of the fingers. Boles et al., (1995) reviewed the literature and demonstrated that the HOXD region was not deleted in the case they described. Maas et al., (2000) reported another patient and suggested a microdeletion of the region 2q23-q24 to be a recognizable syndrome. Goodman et al., (2002) reported a girl with bilateral split foot and a chromosome deletion including the entire HOXD cluster and extending approximately 5Mb centromeric to it. This suggests that the underlying gene(s) might be 5' to the HOXD genes.
A patient with a 2q31.1 submicroscopic delation was microcephalic and mild to moderately mentally handicapped (Svensson et al., 2007). In her hands, there was mild skin syndactyly of digits 2,3 and 4, short middle phalanges and symphalangism of metacarpo-phalangeal joints 2 and 5. In her feet the symphalangism involved 2,3 and 4th joints. Pre-axial polydactyly of the great toes was a feature in the microdeletion of 2q31.1-31.2 reported by Tsai et al., (2009). The HOXD gene cluster was deleted. Eight new patients with 2q31.1 microdeletions were reported by Mitter et al., (2010). Four were microcephalic, 1 had a colobomatous microphthalmia, 1 had a split hand and 2 had finger syndactyly. This was also common in the feet. Three had abnormal genetalia and 3 cardiac lesions. Dimitrov et al., (2011) reported 5 patients with variable skeletal pohenotype due to hemizygosity of HOXD.
Fourteen patients with microdeletions were reported by Theisen et al., (2010), All had neurological dysfunction of varying degree and 7 had hand/foot anomalies (syndactyly, brachydactyly, ectrodactyly).
* This information is courtesy of the L M D.
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What gene changes cause Chromosome 2q31 - Microdeletion?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Chromosome 2q31 - Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for Chromosome 2q31 - Microdeletion?
The initial testing for Chromosome 2q31 - Microdeletion can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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