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Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH - Korean J Lab Med (2011)

Bottom Line: In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation.However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation.Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH).

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Pusan National University Hospital, Busan, Korea.

ABSTRACT
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most cases of Miller-Dieker syndrome have a de novo deletion involving 17p13.3. When Miller-Dieker syndrome is caused by an unbalanced translocation, mild-to-severe phenotypes occur according to the extension of the involved partner chromosome. However, a pure partial monosomy derived from a paternal balanced translocation is relatively rare. In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation. However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation. Sequential G-banding and FISH analysis of the father's chromosomes showed that the segment of 17p13.3→pter was attached to the 12qter. Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH). If such cases are incorrectly diagnosed as Miller-Dieker syndrome caused by de novo 17p13.3 deletion, the resultant improper genetic counseling may make it difficult to exactly predict the potential risk of recurrent lissencephaly for successive pregnancies.

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T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.
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Figure 1: T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.

Mentions: The patient was their third baby and was diagnosed with ventriculomegaly during the antepartum period. The birth weight was 1,680 g (<3rd percentile), the length of the baby was 42.3 cm (<3rd percentile), and the head circumference was 30 cm (3rd-10th percentile). At birth, she was noted to have facial dysmorphism, including prominent frontal bossing, a high nasal bridge, low-set ears, a thin inferior lip, micrognathia, and arthrogryposis. On the 3rd day after birth, she was diagnosed with symptomatic patent ductus arteriosus by echocardiography. Neuromotor delay with marked generalized hypotonia was observed. An electroencephalogram showed diffuse brain dysfunction, and magnetic resonance imaging (MRI) showed lissencephaly with band heterotopia and agenesis of the corpus callosum (Fig. 1). At 5 months of age, she was taken to the emergency room because of generalized tonic seizures and showed failure to thrive. The parents had no history of epilepsy or neurologic problems.


Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3.

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH - Korean J Lab Med (2011)

T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC3111033&req=5

Figure 1: T2-weighted brain magnetic resonance imaging showing lissencephaly with band heterotopia and agenesis of the corpus callosum.
Mentions: The patient was their third baby and was diagnosed with ventriculomegaly during the antepartum period. The birth weight was 1,680 g (<3rd percentile), the length of the baby was 42.3 cm (<3rd percentile), and the head circumference was 30 cm (3rd-10th percentile). At birth, she was noted to have facial dysmorphism, including prominent frontal bossing, a high nasal bridge, low-set ears, a thin inferior lip, micrognathia, and arthrogryposis. On the 3rd day after birth, she was diagnosed with symptomatic patent ductus arteriosus by echocardiography. Neuromotor delay with marked generalized hypotonia was observed. An electroencephalogram showed diffuse brain dysfunction, and magnetic resonance imaging (MRI) showed lissencephaly with band heterotopia and agenesis of the corpus callosum (Fig. 1). At 5 months of age, she was taken to the emergency room because of generalized tonic seizures and showed failure to thrive. The parents had no history of epilepsy or neurologic problems.

Bottom Line: In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation.However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation.Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH).

View Article: PubMed Central - PubMed

Affiliation: Department of Laboratory Medicine, Pusan National University Hospital, Busan, Korea.

ABSTRACT
Miller-Dieker syndrome involves a severe type of lissencephaly, which is caused by defects in the lissencephaly gene (LIS1). We report the case of a female infant with der(17)t(12;17)(q24.33;p13.3)pat caused by an unbalanced segregation of the parental balanced translocation of 17p with other chromosomes. The proband presented with facial dysmorphism, arthrogryposis, and intrauterine growth retardation. Most cases of Miller-Dieker syndrome have a de novo deletion involving 17p13.3. When Miller-Dieker syndrome is caused by an unbalanced translocation, mild-to-severe phenotypes occur according to the extension of the involved partner chromosome. However, a pure partial monosomy derived from a paternal balanced translocation is relatively rare. In this case, the submicroscopic cryptic deletion in the proband was initially elucidated by FISH, and karyotype analysis did not reveal additional chromosome abnormalities such as translocation. However, a family history of recurrent pregnancy abnormalities strongly suggested familial translocation. Sequential G-banding and FISH analysis of the father's chromosomes showed that the segment of 17p13.3→pter was attached to the 12qter. Thus, we report a case that showed resemblance to the findings in cases of a nearly pure 17p deletion, derived from t(12;17), and delineated by whole genome array comparative genomic hybridization (CGH). If such cases are incorrectly diagnosed as Miller-Dieker syndrome caused by de novo 17p13.3 deletion, the resultant improper genetic counseling may make it difficult to exactly predict the potential risk of recurrent lissencephaly for successive pregnancies.

Show MeSH
Related in: MedlinePlus