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A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

Giordano M, Gertosio C, Pagani S, Meazza C, Fusco I, Bozzola E, Bozzola M - BMC Med. Genet. (2015)

Bottom Line: Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH.Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. giordano@med.unipmn.it.

ABSTRACT

Background: Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.

Case presentation: In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).

Conclusion: Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.

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Related in: MedlinePlus

Facial features of the patient. Patient showing facial characteristics, including macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, short palpebral fissures, large and prominent ears
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Fig2: Facial features of the patient. Patient showing facial characteristics, including macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, short palpebral fissures, large and prominent ears

Mentions: Concerning the morphological aspect (Fig. 1), the patient presents gynoid habitus, abdominal fat, pseudogynecomastia (presence of only adipose tissue), hypoplastic genitalia with microtestes (volume of 2 ml), generalized hypotonia, genus valgus, pes planus, short toes, café au lait spot on the left shoulder and in the right lumbar region. Facial features (Fig. 2) are characterized by: macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, white tuft of hair on the top of his head (Fig. 3).Fig. 1


A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

Giordano M, Gertosio C, Pagani S, Meazza C, Fusco I, Bozzola E, Bozzola M - BMC Med. Genet. (2015)

Facial features of the patient. Patient showing facial characteristics, including macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, short palpebral fissures, large and prominent ears
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4593198&req=5

Fig2: Facial features of the patient. Patient showing facial characteristics, including macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, short palpebral fissures, large and prominent ears
Mentions: Concerning the morphological aspect (Fig. 1), the patient presents gynoid habitus, abdominal fat, pseudogynecomastia (presence of only adipose tissue), hypoplastic genitalia with microtestes (volume of 2 ml), generalized hypotonia, genus valgus, pes planus, short toes, café au lait spot on the left shoulder and in the right lumbar region. Facial features (Fig. 2) are characterized by: macrocephaly, broad forehead, prominent nose root and coarse nasal pyramid, anteverted nares, white tuft of hair on the top of his head (Fig. 3).Fig. 1

Bottom Line: Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH.Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. giordano@med.unipmn.it.

ABSTRACT

Background: Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.

Case presentation: In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).

Conclusion: Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.

Show MeSH
Related in: MedlinePlus