Cri du Chat Sendromu, 5P Delesyonu Saptanan Beş Aylık Kız Olgu

Tolga Altuğ ŞEN; Hamide MELEK; Reşit KÖKEN; Necat İMİRZALIOĞLU

Article Details

Cri du Chat Sendromu, 5P Delesyonu Saptanan Beş Aylık Kız Olgu

Authors:

Tolga Altuğ ŞEN | Hamide MELEK | Reşit KÖKEN | Necat İMİRZALIOĞLU

Publisher:

Bursa Uludağ University

Journal:

The Journal of Current Pediatrics 2008 Vol.6 Issue 3, pp.86-88

Document Type:

Article

Publication Date:

11/2008

Document Language:

Turkish

Document ID (Org No.):

2000805444

Frequency:

Tri-annual

eISSN:

1308-6308

pISSN:

1304-9054

Keywords:

Abstract:

 

This five month-old girl was admitted to our clinic due to failure to thrive. Onphysical examination, her weight, length and head circumference was belowthe 3rd percentile, she had blond hair, facial dysmorphism and high archedpalate. Pronounced hypotonia and motor retardation was present and high-pitched crying was striking. In echocardiographic examination, secundum type ASD and midtrabecular VSD without any important hemodynamic effect was present. In cranial MRI exmination, dilated 4th ventricles and delayed myelinisation in basal ganglia was detected. By the helpof high resolution binding teqhnique, deletion in the short arm of the 5th chromosome was detected and diagnosis of Cri du Chat Syndrome was made.

 

Beş aylık kız olgu yeterli tartı alamadığı için getirildi. Fizik muayenesinde boyu,kilosu, baş çevresi 3. persentilin altında olan olgunun açık renkli saçları, fasiyaldismorfizmi, yüksek damağı mevcuttu. Olgunun belirgin hipotonisi, motor retardasyonu saptanırken, tiz sesle ağlaması oldukça dikkat çekiciydi. Ekokardiyografide hemodinamik olarak önemsiz derecede olan sekundum tipi atrial septaldefekt ve midtrabeküler ventriküler septal defekt saptandı. Kraniyal MRI’da 4.ventriküllerde genişleme ve bazal ganglionlarda miyelinizasyon gecikmesi bulunmaktaydı. Olgunun periferik kanından yapılan high resolution binding kromozom analizinde 5. kromozom kısa kolunda delesyon saptanınca, 5p delesyon Cri du Chat  sendromu tanısı konuldu.

Article Details

Cri du Chat Sendromu, 5P Delesyonu Saptanan Beş Aylık Kız Olgu

Authors:

Tolga Altuğ ŞEN | Hamide MELEK | Reşit KÖKEN | Necat İMİRZALIOĞLU

Publisher:

Bursa Uludağ University

Journal:

The Journal of Current Pediatrics 2008 Vol.6 Issue 3, pp.86-88

Document Type:

Article

Publication Date:

11/2008

Document Language:

Turkish

Document ID (Org No.):

2000805444

Frequency:

Tri-annual

eISSN:

1308-6308

pISSN:

1304-9054

Kedi ağlaması

5 nolu kromozom

delesyon

hipotoni

tartıalamama

Issues

Article Details

Cri du Chat Sendromu, 5P Delesyonu Saptanan Beş Aylık Kız Olgu

Authors: Tolga Altuğ ŞEN | Hamide MELEK | Reşit KÖKEN | Necat İMİRZALIOĞLU

Publisher: Bursa Uludağ University

Journal: The Journal of Current Pediatrics 2008 Vol.6 Issue 3, pp.86-88

Document Type: Article

Publication Date: 11/2008

Document Language: Turkish

Document ID (Org No.): 2000805444

Frequency: Tri-annual

eISSN: 1308-6308

pISSN: 1304-9054

Kedi ağlaması

5 nolu kromozom

delesyon

hipotoni

tartıalamama

Issues

Authors:

Tolga Altuğ ŞEN | Hamide MELEK | Reşit KÖKEN | Necat İMİRZALIOĞLU

Publisher:

Bursa Uludağ University

Journal:

The Journal of Current Pediatrics 2008 Vol.6 Issue 3, pp.86-88

Document Type:

Article

Publication Date:

11/2008

Document Language:

Turkish

Document ID (Org No.):

2000805444

Frequency:

Tri-annual

eISSN:

1308-6308

pISSN:

1304-9054