A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: Appraisal of interstitial mid-13q deletions

Carlos Córdova-Fletes, Horacio Rivera, Eduardo A. Garza-Villarreal, Norma A. Vázquéz-Cárdenas, Lizeth A. Martínez-Jacobo, Talia Moreno-Andrade

Research output: Contribution to journalArticle

Abstract

© 2017 Wolters Kluwer Health, Inc. All rights reserved. We report on a female 2.11-year-old toddler (Fig. 1a and b) presenting a 13q21.32q31.2 deletion to further refine the molecular aspects and the genotype-phenotype associations. The patient was born to a 28-year-old, G1 mother and an unrelated father. Except for a firsttrimester transient miscarriage threat, the pregnancy was uneventful. The patient was born at 38 weeks by caesarean section with birth weight, length, and Apgar scores at 1 and 5 min of 2720 g (10th centile), 52 cm (95th centile), and 8 and 9, respectively. Hypotonia was present at birth. Neonatal metabolic screening and auditoryevoked response testing were normal. At the age of 4 months, growth retardation, feeding difficulties, and gastroesophageal reflux disease were diagnosed. She had recurrent respiratory infections and moderate psychomotor delay. An abdominal ultrasound and computed tomography (CT) scan of the head were normal (Fig. 1c). At the age of 211/12 years, her height was 82 cm (3rd centile) and head circumference was 47 cm (15th centile). An esophagogastroduodenal motility series showed normal motility (40 min) and absence of gastroesophageal reflux. At this age (Fig. 1a), her craniofacial dysmorphism included dolichocephaly, sparse and curly hair, asymmetric, long, and triangular-shaped face, a prominent forehead and frontal bossing, and a small chin. She had prominent eyes with left eyelid ptosis, long eyelashes, iris atrophy without coloboma, sectoral heterochromia and hypopigmentation of the irides (a bright blue stellate iris pattern), normal fundus, a broad nasal bridge, a thick upper lip, long philtrum, ears with thick helix, a short neck, pectus excavatum, thenar hypoplasia, and persistence of the fetal finger pads. Neurological examination included evaluations of fine motor skills, adaptive-social behavior, and language. In brief, the patient showed significant problems in each feature evaluated compared with age-matched toddlers. Her gross motor milestones were also delayed: head support, crawling, and walking at 12, 18, and 24 months of age, respectively.
Original languageEnglish
Pages (from-to)33-37
Number of pages5
JournalClinical Dysmorphology
DOIs
Publication statusPublished - 1 Jan 2017
Externally publishedYes

Fingerprint

Hypopigmentation
Iris
Head
Gastroesophageal Reflux
Lip
Eyelashes
Blepharoptosis
Funnel Chest
Coloboma
Neonatal Screening
Chin
Muscle Hypotonia
Motor Skills
Forehead
Apgar Score
Social Behavior
Psychological Adaptation
Neurologic Examination
Genetic Association Studies
Spontaneous Abortion

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

Cite this

Córdova-Fletes, Carlos ; Rivera, Horacio ; Garza-Villarreal, Eduardo A. ; Vázquéz-Cárdenas, Norma A. ; Martínez-Jacobo, Lizeth A. ; Moreno-Andrade, Talia. / A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: Appraisal of interstitial mid-13q deletions. In: Clinical Dysmorphology. 2017 ; pp. 33-37.
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A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: Appraisal of interstitial mid-13q deletions. / Córdova-Fletes, Carlos; Rivera, Horacio; Garza-Villarreal, Eduardo A.; Vázquéz-Cárdenas, Norma A.; Martínez-Jacobo, Lizeth A.; Moreno-Andrade, Talia.

In: Clinical Dysmorphology, 01.01.2017, p. 33-37.

Research output: Contribution to journalArticle

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T1 - A del(13)(q21.32q31.2)dn refined to 21.9 Mb in a female toddler with irides heterochromia and hypopigmentation: Appraisal of interstitial mid-13q deletions

AU - Córdova-Fletes, Carlos

AU - Rivera, Horacio

AU - Garza-Villarreal, Eduardo A.

AU - Vázquéz-Cárdenas, Norma A.

AU - Martínez-Jacobo, Lizeth A.

AU - Moreno-Andrade, Talia

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N2 - © 2017 Wolters Kluwer Health, Inc. All rights reserved. We report on a female 2.11-year-old toddler (Fig. 1a and b) presenting a 13q21.32q31.2 deletion to further refine the molecular aspects and the genotype-phenotype associations. The patient was born to a 28-year-old, G1 mother and an unrelated father. Except for a firsttrimester transient miscarriage threat, the pregnancy was uneventful. The patient was born at 38 weeks by caesarean section with birth weight, length, and Apgar scores at 1 and 5 min of 2720 g (10th centile), 52 cm (95th centile), and 8 and 9, respectively. Hypotonia was present at birth. Neonatal metabolic screening and auditoryevoked response testing were normal. At the age of 4 months, growth retardation, feeding difficulties, and gastroesophageal reflux disease were diagnosed. She had recurrent respiratory infections and moderate psychomotor delay. An abdominal ultrasound and computed tomography (CT) scan of the head were normal (Fig. 1c). At the age of 211/12 years, her height was 82 cm (3rd centile) and head circumference was 47 cm (15th centile). An esophagogastroduodenal motility series showed normal motility (40 min) and absence of gastroesophageal reflux. At this age (Fig. 1a), her craniofacial dysmorphism included dolichocephaly, sparse and curly hair, asymmetric, long, and triangular-shaped face, a prominent forehead and frontal bossing, and a small chin. She had prominent eyes with left eyelid ptosis, long eyelashes, iris atrophy without coloboma, sectoral heterochromia and hypopigmentation of the irides (a bright blue stellate iris pattern), normal fundus, a broad nasal bridge, a thick upper lip, long philtrum, ears with thick helix, a short neck, pectus excavatum, thenar hypoplasia, and persistence of the fetal finger pads. Neurological examination included evaluations of fine motor skills, adaptive-social behavior, and language. In brief, the patient showed significant problems in each feature evaluated compared with age-matched toddlers. Her gross motor milestones were also delayed: head support, crawling, and walking at 12, 18, and 24 months of age, respectively.

AB - © 2017 Wolters Kluwer Health, Inc. All rights reserved. We report on a female 2.11-year-old toddler (Fig. 1a and b) presenting a 13q21.32q31.2 deletion to further refine the molecular aspects and the genotype-phenotype associations. The patient was born to a 28-year-old, G1 mother and an unrelated father. Except for a firsttrimester transient miscarriage threat, the pregnancy was uneventful. The patient was born at 38 weeks by caesarean section with birth weight, length, and Apgar scores at 1 and 5 min of 2720 g (10th centile), 52 cm (95th centile), and 8 and 9, respectively. Hypotonia was present at birth. Neonatal metabolic screening and auditoryevoked response testing were normal. At the age of 4 months, growth retardation, feeding difficulties, and gastroesophageal reflux disease were diagnosed. She had recurrent respiratory infections and moderate psychomotor delay. An abdominal ultrasound and computed tomography (CT) scan of the head were normal (Fig. 1c). At the age of 211/12 years, her height was 82 cm (3rd centile) and head circumference was 47 cm (15th centile). An esophagogastroduodenal motility series showed normal motility (40 min) and absence of gastroesophageal reflux. At this age (Fig. 1a), her craniofacial dysmorphism included dolichocephaly, sparse and curly hair, asymmetric, long, and triangular-shaped face, a prominent forehead and frontal bossing, and a small chin. She had prominent eyes with left eyelid ptosis, long eyelashes, iris atrophy without coloboma, sectoral heterochromia and hypopigmentation of the irides (a bright blue stellate iris pattern), normal fundus, a broad nasal bridge, a thick upper lip, long philtrum, ears with thick helix, a short neck, pectus excavatum, thenar hypoplasia, and persistence of the fetal finger pads. Neurological examination included evaluations of fine motor skills, adaptive-social behavior, and language. In brief, the patient showed significant problems in each feature evaluated compared with age-matched toddlers. Her gross motor milestones were also delayed: head support, crawling, and walking at 12, 18, and 24 months of age, respectively.

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