Abstract
Background: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. Case presentation: We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6. Conclusion: We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.
| Original language | English |
|---|---|
| Article number | 69 |
| Journal | BMC Medical Genetics |
| Volume | 16 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Aug 23 2015 |
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Keywords
- 6q24.2-q25.2 deletion
- Chromosome deletion
- Growth failure
- Growth hormone deficiency
- Short stature
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency : A twelve-year follow-up and literature review. / Stagi, Stefano; Lapi, Elisabetta; Pantaleo, Marilena; Carella, Massimo; Petracca, Antonio; De Crescenzo, Agostina; Zelante, Leopoldo; Riccio, Andrea; de Martino, Maurizio.
In: BMC Medical Genetics, Vol. 16, No. 1, 69, 23.08.2015.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency
T2 - A twelve-year follow-up and literature review
AU - Stagi, Stefano
AU - Lapi, Elisabetta
AU - Pantaleo, Marilena
AU - Carella, Massimo
AU - Petracca, Antonio
AU - De Crescenzo, Agostina
AU - Zelante, Leopoldo
AU - Riccio, Andrea
AU - de Martino, Maurizio
PY - 2015/8/23
Y1 - 2015/8/23
N2 - Background: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. Case presentation: We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6. Conclusion: We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.
AB - Background: Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descriptions are lacking. Case presentation: We describe a male of Italian descent born at 35 weeks by elective caesarean delivery presenting hypoplastic left colon, bilateral inguinal hernia, dysplastic tricuspid and pulmonary valves, premature ventricular contractions, recurrent otitis media, poor feeding, gastro-oesophageal reflux, bilateral pseudopapilledema, and astigmatism. He also showed particular facial dysmorphisms and postnatal growth failure. Early psychomotor development was mildly delayed. At 3.75 years, he was evaluated for severe short stature (-2.98 SD) and delayed bone age. He showed an insulin-like growth factor 1 concentration (IGF-1) in the low-normal range. Growth hormone stimulation tests showed a low response to clonidine and insulin. Magnetic resonance imaging showed hypophyseal hypoplasia. Genetic evaluation by Single Nucleotide Polymorphism arrays showed a de novo 6q24.2-q25.2 deletion on paternal chromosome 6. Conclusion: We confirm that this is a new congenital malformation syndrome associated with a deletion of 6q24.2-q25.2 on paternal chromosome 6. We suggest evaluating the growth hormone axis in children with 6q24.2-q25.2 deletions and growth failure.
KW - 6q24.2-q25.2 deletion
KW - Chromosome deletion
KW - Growth failure
KW - Growth hormone deficiency
KW - Short stature
UR - http://www.scopus.com/inward/record.url?scp=84939626413&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84939626413&partnerID=8YFLogxK
U2 - 10.1186/s12881-015-0212-z
DO - 10.1186/s12881-015-0212-z
M3 - Article
VL - 16
JO - BMC Medical Genetics
JF - BMC Medical Genetics
SN - 1471-2350
IS - 1
M1 - 69
ER -