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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George AM, Love DR - Case Rep Genet (2015)

Bottom Line: To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14.The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly.This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

View Article: PubMed Central - PubMed

Affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

ABSTRACT
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

No MeSH data available.


Related in: MedlinePlus

(a) Image of Patient 2. (b) Patient 2 exhibits frontal bossing and macrocephaly.
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fig1: (a) Image of Patient 2. (b) Patient 2 exhibits frontal bossing and macrocephaly.

Mentions: Further paediatric examination at 3 years 8 months of age showed height of 102.2 cm (75th centile), weight of 17.4 kg (75–90th centile), and head circumference of 54 cm (+3.5 SD). There were no obvious dysmorphic features or neurocutaneous stigmata and she was undergoing treatment for a strabismus. She had evidence of both gross motor/fine motor and language delay but was showing excellent catching up of her development with appropriate inputs. Her last review at 4 years 5 months showed that her head circumference continued to track above the centiles at 55 cm; she was 108 cm tall (75–90th centile) and weighed 20 kg (90th centile). She still met the criteria for a diagnosis of ASD and had global gross motor/fine motor and language delay but was showing very encouraging improvements in all aspects of her development. It was noted that she had mild plagiocephaly, a prominent brow, and mild hypertelorism (Figure 1(b)). The patient does not exhibit Osteopoikilosis, but she may be too young to manifest symptoms. The patient proved negative for mutations in the PTEN gene (by both dosage and sequencing), which was performed in light of macrocephaly and the diagnosis of autism.


12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region.

Mc Cormack A, Sharpe C, Gregersen N, Smith W, Hayes I, George AM, Love DR - Case Rep Genet (2015)

(a) Image of Patient 2. (b) Patient 2 exhibits frontal bossing and macrocephaly.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4525753&req=5

fig1: (a) Image of Patient 2. (b) Patient 2 exhibits frontal bossing and macrocephaly.
Mentions: Further paediatric examination at 3 years 8 months of age showed height of 102.2 cm (75th centile), weight of 17.4 kg (75–90th centile), and head circumference of 54 cm (+3.5 SD). There were no obvious dysmorphic features or neurocutaneous stigmata and she was undergoing treatment for a strabismus. She had evidence of both gross motor/fine motor and language delay but was showing excellent catching up of her development with appropriate inputs. Her last review at 4 years 5 months showed that her head circumference continued to track above the centiles at 55 cm; she was 108 cm tall (75–90th centile) and weighed 20 kg (90th centile). She still met the criteria for a diagnosis of ASD and had global gross motor/fine motor and language delay but was showing very encouraging improvements in all aspects of her development. It was noted that she had mild plagiocephaly, a prominent brow, and mild hypertelorism (Figure 1(b)). The patient does not exhibit Osteopoikilosis, but she may be too young to manifest symptoms. The patient proved negative for mutations in the PTEN gene (by both dosage and sequencing), which was performed in light of macrocephaly and the diagnosis of autism.

Bottom Line: To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14.The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly.This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

View Article: PubMed Central - PubMed

Affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

ABSTRACT
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to previously published cases, one patient has haploinsufficiency of the HMGA2 gene and shows severe short stature and developmental delay. The second patient is only one of a handful without the loss of the HMGA2 gene and shows a much better growth profile, but with absolute macrocephaly. This patient's deletion is unique and hence defines a likely macrocephaly locus that contributes to the general phenotype characterising the 12q14 syndrome.

No MeSH data available.


Related in: MedlinePlus