the patients have various clinical features depending on the size and deleted region on chromosome 13 .
the 13q syndrome is characterized into 3 groups : group 1 in which proximal region ( q12.2-q31 ) is involved in deletion and patients tend to appear with minor abnormalities , mild to moderate mental retardation and susceptible to retinoblastoma .
group 2 included those with proximal to q32 ( q12.2-q32 ) , these patients appear with major malfunctions , moderate to severe mental retardation and microcephaly and growth retardation .
group 3 comprised those with q33-q34 ; these patients have severe mental retardation without major malfunctions and growth retardation .
a 5-year - old boy was referred for genetic counseling with different phenotypical features [ table 1 ] .
the patient was the product of a full - term pregnancy and normal vaginal delivery .
he had seizure beginning from 2 months ; brain computed tomography ( ct ) scan displayed agenesis of vermis of the cerebellum [ figure 1 ] , the clinical features in this case were : clinical features of the patients ( a ) note to the ptosis , down slanted palpebral fissures , strabismus , and high nasal bridge .
( d ) agenesis of the vermis cerebellum cleft palate , microcephaly ( head circumference of 45 cm [ < -2 sd ( 2% ) ] ) , moderate to severe mental retardation , speech difficulty , asymmetric in left skulp , ptosis , club feet , down slanted palperbal fissures , hypospadias , neurodevelopmental delay , syndactyly in both hands fingers , short metacarp , overriding of the fourth toes , strabismus , left blepharophimosis in the left side , high nasal bridge , thin lips , micrognathia , no ovala , dental decay , small ears , and hypoplastic thumb .
a 12-year - old girl was referred with dysmorphic features , mild mental retardation , and neurodevelopmental delay [ table 1 ] .
the girl was the product of a normal pregnancy and birth weight and height were 3.5 kg and 49 cm , respectively .
head circumference was 53 cm normal for the age of 12 years , and she is studying in the elementary school .
parents were first cousins once removed with the history of one abortion in the mother .
clinical characterizations included [ figure 2 ] : generalized weakness of muscle bulk ( hypotonia ) , scapula alata , upper limb girdle weakness , high nasal bridge , wide mandibular angle , high arched palate , thin and long narrow face , down slanted palpebral fissures , hypoplasia of alae nasi , low hairline , webbed neck , overriding toes , and sandal gap .
( a ) note to the high nasal bridge , wide mandibular angle , thin and long narrow face , down slanted palpebral fissures , web neck .
a 5-year - old boy was referred for genetic counseling with different phenotypical features [ table 1 ] .
the patient was the product of a full - term pregnancy and normal vaginal delivery .
he had seizure beginning from 2 months ; brain computed tomography ( ct ) scan displayed agenesis of vermis of the cerebellum [ figure 1 ] , the clinical features in this case were : clinical features of the patients ( a ) note to the ptosis , down slanted palpebral fissures , strabismus , and high nasal bridge .
( d ) agenesis of the vermis cerebellum cleft palate , microcephaly ( head circumference of 45 cm [ < -2 sd ( 2% ) ] ) , moderate to severe mental retardation , speech difficulty , asymmetric in left skulp , ptosis , club feet , down slanted palperbal fissures , hypospadias , neurodevelopmental delay , syndactyly in both hands fingers , short metacarp , overriding of the fourth toes , strabismus , left blepharophimosis in the left side , high nasal bridge , thin lips , micrognathia , no ovala , dental decay , small ears , and hypoplastic thumb .
a 12-year - old girl was referred with dysmorphic features , mild mental retardation , and neurodevelopmental delay [ table 1 ] .
the girl was the product of a normal pregnancy and birth weight and height were 3.5 kg and 49 cm , respectively .
head circumference was 53 cm normal for the age of 12 years , and she is studying in the elementary school .
parents were first cousins once removed with the history of one abortion in the mother .
clinical characterizations included [ figure 2 ] : generalized weakness of muscle bulk ( hypotonia ) , scapula alata , upper limb girdle weakness , high nasal bridge , wide mandibular angle , high arched palate , thin and long narrow face , down slanted palpebral fissures , hypoplasia of alae nasi , low hairline , webbed neck , overriding toes , and sandal gap .
( a ) note to the high nasal bridge , wide mandibular angle , thin and long narrow face , down slanted palpebral fissures , web neck .
a 5-year - old boy was referred for genetic counseling with different phenotypical features [ table 1 ] .
the patient was the product of a full - term pregnancy and normal vaginal delivery .
he had seizure beginning from 2 months ; brain computed tomography ( ct ) scan displayed agenesis of vermis of the cerebellum [ figure 1 ] , the clinical features in this case were : clinical features of the patients ( a ) note to the ptosis , down slanted palpebral fissures , strabismus , and high nasal bridge .
( d ) agenesis of the vermis cerebellum cleft palate , microcephaly ( head circumference of 45 cm [ < -2 sd ( 2% ) ] ) , moderate to severe mental retardation , speech difficulty , asymmetric in left skulp , ptosis , club feet , down slanted palperbal fissures , hypospadias , neurodevelopmental delay , syndactyly in both hands fingers , short metacarp , overriding of the fourth toes , strabismus , left blepharophimosis in the left side , high nasal bridge , thin lips , micrognathia , no ovala , dental decay , small ears , and hypoplastic thumb .
a 12-year - old girl was referred with dysmorphic features , mild mental retardation , and neurodevelopmental delay [ table 1 ] .
the girl was the product of a normal pregnancy and birth weight and height were 3.5 kg and 49 cm , respectively .
head circumference was 53 cm normal for the age of 12 years , and she is studying in the elementary school .
parents were first cousins once removed with the history of one abortion in the mother .
clinical characterizations included [ figure 2 ] : generalized weakness of muscle bulk ( hypotonia ) , scapula alata , upper limb girdle weakness , high nasal bridge , wide mandibular angle , high arched palate , thin and long narrow face , down slanted palpebral fissures , hypoplasia of alae nasi , low hairline , webbed neck , overriding toes , and sandal gap .
( a ) note to the high nasal bridge , wide mandibular angle , thin and long narrow face , down slanted palpebral fissures , web neck . ( b ) scapula alata
standard high - resolution gtg banding was carried out in order to investigate the patients chromosomes .
case 1 , a boy with deletion of q33-q34 [ figure 3 ] who had microcephaly , moderate to severe mental retardation , neurodevelopmental delay , and primary diagnosis was moebius syndrome .
case 2 was a girl with deletion of q12.3-q14.3 [ figure 3 ] , with dismorphic features , neurodevelopmental delay and neuropathy , but not microcephaly and seizure ; this case did not have any retinoblastoma .
( a ) the abnormal chromosome displays deleted region from q33 to q34 which , belongs to group 3 .
( b ) the abnormal chromosome , with deleted region of q12.3-q14.3 belongs to group 1 case 1 related to the group 3 with more severe phenotypical and neurological features and case 2 related to the group 1 with less clinical and neurological characterizations .
overall case 1 exhibited more dysmorphic characterizations and more severe mental retardation than case 2 .
it is recommended that children with seizure , neuropathy , mental retardation , and dismorphic features can be the candidate for chromosomal investigation as well as other tests required for evaluation .
 patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13 . 
 these patients fall into three groups : in group 1 , deleted region is in the proximal and does not extend into q32 ; in group 2 , deleted region involves proximal to the q32 and in group 3 q33-q34 is deleted . 
 we present two cases with 13q syndrome with two different deleted region and different severity on clinical features : one case with interstitial deletion belongs to the group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to group 3 with moderate to severe mental retardation and major malformations . 
Introduction
Case Reports
None
Case 1
Case 2
Materials and Methods
Results and Discussion