Abstract
We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
| Original language | English |
|---|---|
| Pages (from-to) | 107-111 |
| Number of pages | 5 |
| Journal | Congenital Anomalies |
| Volume | 55 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - May 1 2015 |
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Keywords
- 2q deletion
- 2q23q24
- Array-comparative genomic hybridization
- Behavioral disorders
ASJC Scopus subject areas
- Developmental Biology
- Pediatrics, Perinatology, and Child Health
- Embryology
- Medicine(all)
Cite this
Microdeletion 2q23.3q24.1 : Exploring genotype-phenotype correlations. / Milani, Donatella; Sabatini, Caterina; Manzoni, Francesca Maria Paola; Ajmone, Paola Francesca; Rigamonti, Claudia; Malacarne, Michela; Pierluigi, Mauro; Cavani, Simona; Costantino, Maria Antonella.
In: Congenital Anomalies, Vol. 55, No. 2, 01.05.2015, p. 107-111.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Microdeletion 2q23.3q24.1
T2 - Exploring genotype-phenotype correlations
AU - Milani, Donatella
AU - Sabatini, Caterina
AU - Manzoni, Francesca Maria Paola
AU - Ajmone, Paola Francesca
AU - Rigamonti, Claudia
AU - Malacarne, Michela
AU - Pierluigi, Mauro
AU - Cavani, Simona
AU - Costantino, Maria Antonella
PY - 2015/5/1
Y1 - 2015/5/1
N2 - We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
AB - We report a case of a 13-year-old girl with a 5.4Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
KW - 2q deletion
KW - 2q23q24
KW - Array-comparative genomic hybridization
KW - Behavioral disorders
UR - http://www.scopus.com/inward/record.url?scp=84927736829&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84927736829&partnerID=8YFLogxK
U2 - 10.1111/cga.12080
DO - 10.1111/cga.12080
M3 - Article
C2 - 25174267
AN - SCOPUS:84927736829
VL - 55
SP - 107
EP - 111
JO - Congenital Anomalies
JF - Congenital Anomalies
SN - 0914-3505
IS - 2
ER -