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Phenotypical characterization of 13q deletion syndrome: Report of two cases.

Bagherizadeh E, Shafaghati Y, Hadipour F, Behjati F - Indian J Hum Genet (2014)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus

(a) Note to the high nasal bridge, wide mandibular angle, thin and long narrow face, down slanted palpebral fissures, web neck. (b) Scapula alata
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Figure 2: (a) Note to the high nasal bridge, wide mandibular angle, thin and long narrow face, down slanted palpebral fissures, web neck. (b) Scapula alata

Mentions: 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. There are two other healthy male and female siblings in the family. She was evaluated by nerve conduction velocity test and exhibited some sort of neuropathy. 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. There were small nevi on her posterior trunk.


Phenotypical characterization of 13q deletion syndrome: Report of two cases.

Bagherizadeh E, Shafaghati Y, Hadipour F, Behjati F - Indian J Hum Genet (2014)

(a) Note to the high nasal bridge, wide mandibular angle, thin and long narrow face, down slanted palpebral fissures, web neck. (b) Scapula alata
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228577&req=5

Figure 2: (a) Note to the high nasal bridge, wide mandibular angle, thin and long narrow face, down slanted palpebral fissures, web neck. (b) Scapula alata
Mentions: 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. There are two other healthy male and female siblings in the family. She was evaluated by nerve conduction velocity test and exhibited some sort of neuropathy. 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. There were small nevi on her posterior trunk.

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Sarem Cell Research Center, Sarem Hospital, Tehran, Iran.

ABSTRACT
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.

No MeSH data available.


Related in: MedlinePlus