Limits...
Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Tsai LP, Lee KF, Fang JS, Liu IY - Mol Cytogenet (2011)

Bottom Line: In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing.There was no other chromosomal rearrangement detected by multicolour banding.This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular Biology and Human Genetics, Tzu Chi University, 701, Sec 3, Chunyang Rd,, Hualien 970, Taiwan. ycliu@mail.tcu.edu.tw.

ABSTRACT

Aim: Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay.

Methods: Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7.

Results: The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere) was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding.

Interpretation: This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

No MeSH data available.


Related in: MedlinePlus

Pictures taken from the front (A) and from the side (B) of the proband at her age of one year and 10 months old. Facial dysmorphism including hypotelorism, midface hypoplasia and high arch palate were noted. Choanal stenosis was suspected because of noise nasal breathing since birth.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC3045371&req=5

Figure 1: Pictures taken from the front (A) and from the side (B) of the proband at her age of one year and 10 months old. Facial dysmorphism including hypotelorism, midface hypoplasia and high arch palate were noted. Choanal stenosis was suspected because of noise nasal breathing since birth.

Mentions: A female child with microcephaly (Figure 1 A and 1B, pictures taken at one year and 10 months of age) and respiratory distress was referred to the genetic counselling at the department of Pediatrics at Tzu Chi General Hospital in Taipei County, Taiwan. The proband was the first child of non-consanguineous parents. The Vietnamese mother was 23 at delivery, and the Taiwanese father was in his 40 s. The proband was born by caesarean section with a birth weight of 2410 gm, length 42 cm and head circumference of 30 cm, all fall below the third percentile for gestational age. Facial dysmorphism was impressed, including hypotelorism, midface hypoplasia and high arch palate. Choanal stenosis was suspected because of noise nasal breathing since birth. Physical examination also detected subcutaneous syndactyly of 3rd and 4th toes. Computed tomography (CT) and transcranial Doppler were directed due to microcephaly. CT of the brain showed mild stepage, widening of the upper part of the right lambdoid suture and mild scalp thickening along the course of the right lambdoid suture. The pediatric brain echo revealed normal ventricles and choroid plexus pulsation; however, a hypoechoic cyst-like lesion was noted next to the quadrigeminal plate. Speech delay and psychomotor retardation was noted during clinical evaluation at thirteen months old. The body weight of 5.4 Kg, height of 61 cm and head circumference of 35.2 cm still fell far below the third percentile on growth curve.


Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7.

Tsai LP, Lee KF, Fang JS, Liu IY - Mol Cytogenet (2011)

Pictures taken from the front (A) and from the side (B) of the proband at her age of one year and 10 months old. Facial dysmorphism including hypotelorism, midface hypoplasia and high arch palate were noted. Choanal stenosis was suspected because of noise nasal breathing since birth.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3045371&req=5

Figure 1: Pictures taken from the front (A) and from the side (B) of the proband at her age of one year and 10 months old. Facial dysmorphism including hypotelorism, midface hypoplasia and high arch palate were noted. Choanal stenosis was suspected because of noise nasal breathing since birth.
Mentions: A female child with microcephaly (Figure 1 A and 1B, pictures taken at one year and 10 months of age) and respiratory distress was referred to the genetic counselling at the department of Pediatrics at Tzu Chi General Hospital in Taipei County, Taiwan. The proband was the first child of non-consanguineous parents. The Vietnamese mother was 23 at delivery, and the Taiwanese father was in his 40 s. The proband was born by caesarean section with a birth weight of 2410 gm, length 42 cm and head circumference of 30 cm, all fall below the third percentile for gestational age. Facial dysmorphism was impressed, including hypotelorism, midface hypoplasia and high arch palate. Choanal stenosis was suspected because of noise nasal breathing since birth. Physical examination also detected subcutaneous syndactyly of 3rd and 4th toes. Computed tomography (CT) and transcranial Doppler were directed due to microcephaly. CT of the brain showed mild stepage, widening of the upper part of the right lambdoid suture and mild scalp thickening along the course of the right lambdoid suture. The pediatric brain echo revealed normal ventricles and choroid plexus pulsation; however, a hypoechoic cyst-like lesion was noted next to the quadrigeminal plate. Speech delay and psychomotor retardation was noted during clinical evaluation at thirteen months old. The body weight of 5.4 Kg, height of 61 cm and head circumference of 35.2 cm still fell far below the third percentile on growth curve.

Bottom Line: In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing.There was no other chromosomal rearrangement detected by multicolour banding.This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Molecular Biology and Human Genetics, Tzu Chi University, 701, Sec 3, Chunyang Rd,, Hualien 970, Taiwan. ycliu@mail.tcu.edu.tw.

ABSTRACT

Aim: Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay.

Methods: Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7.

Results: The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere) was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding.

Interpretation: This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

No MeSH data available.


Related in: MedlinePlus