Abstract
The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge. Facial anomalies were nonoverlapping and nondistinct, also within each mother-daughter pair. Parental transmission of del 3q29 could be more frequent than previously considered. Malformations are rare, occurring only in single subjects. The phenotypic diversity of affected patients and the lack of distinct dysmorphisms suggest that this disorder cannot be recognized on clinical ground alone. Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies.
| Original language | English |
|---|---|
| Pages (from-to) | 1777-1781 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 149 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 2009 |
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Keywords
- Array-CGH analysis
- Deletion 3q29
- Mental retardation
- Microcephaly
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
3q29 Microdeletion : A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. / Digilio, Maria Cristina; Bernardini, Laura; Mingarelli, Rita; Capolino, Rossella; Capalbo, Anna; Giuffrida, Maria Grazia; Versacci, Paolo; Novelli, Antonio; Dallapiccola, Bruno.
In: American Journal of Medical Genetics, Part A, Vol. 149, No. 8, 08.2009, p. 1777-1781.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - 3q29 Microdeletion
T2 - A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs
AU - Digilio, Maria Cristina
AU - Bernardini, Laura
AU - Mingarelli, Rita
AU - Capolino, Rossella
AU - Capalbo, Anna
AU - Giuffrida, Maria Grazia
AU - Versacci, Paolo
AU - Novelli, Antonio
AU - Dallapiccola, Bruno
PY - 2009/8
Y1 - 2009/8
N2 - The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge. Facial anomalies were nonoverlapping and nondistinct, also within each mother-daughter pair. Parental transmission of del 3q29 could be more frequent than previously considered. Malformations are rare, occurring only in single subjects. The phenotypic diversity of affected patients and the lack of distinct dysmorphisms suggest that this disorder cannot be recognized on clinical ground alone. Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies.
AB - The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray-based technology. The phenotype of the reported patients is variable, including mental retardation and subtle facial anomalies. We report on two mother-daughter pairs, heterozygous for 3q29, and review clinical features of all known affected individuals. Del 3q29 syndrome is associated with nonspecific clinical features, including mild-to-moderate developmental delay, microcephaly, and mild facial dysmorphisms such as short philtrum and high nasal bridge. Facial anomalies were nonoverlapping and nondistinct, also within each mother-daughter pair. Parental transmission of del 3q29 could be more frequent than previously considered. Malformations are rare, occurring only in single subjects. The phenotypic diversity of affected patients and the lack of distinct dysmorphisms suggest that this disorder cannot be recognized on clinical ground alone. Del 3q29 should be searched in subjects with unexplained mild/moderate mental retardation, microcephaly, and minor nonspecific facial anomalies.
KW - Array-CGH analysis
KW - Deletion 3q29
KW - Mental retardation
KW - Microcephaly
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UR - http://www.scopus.com/inward/citedby.url?scp=68049113476&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.32965
DO - 10.1002/ajmg.a.32965
M3 - Article
C2 - 19610115
AN - SCOPUS:68049113476
VL - 149
SP - 1777
EP - 1781
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 8
ER -